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Gene: Agpat3 MGI:1336186

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Gene Summary

Name:
1-acylglycerol-3-phosphate O-acyltransferase 3
Synonyms:
LPAAT3,  D10Jhu12e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Agpat3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

18 Images

View images
Legacy Phenotype Associated Images
Agpat3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Agpat3tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI

View all 104 images

Agpat3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Agpat3tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI

View all 7 images

Human diseases caused by Agpat3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Agpat3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... OMIM:603649
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment OMIM:126600
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Stargardt Disease 3
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment OMIM:600110
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Best Vitelliform Macular Dystrophy
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... ORPHA:1243
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... ORPHA:59181
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... OMIM:180020
Leber Congenital Amaurosis 19
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... ORPHA:85128
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... OMIM:616544
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin... OMIM:609923
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 17
Male infertility OMIM:617214
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... OMIM:609021
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... OMIM:600977
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... OMIM:180210
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Bietti Crystalline Dystrophy
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... ORPHA:41751
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... OMIM:600138
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... OMIM:610381
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Wagner Vitreoretinopathy
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... OMIM:143200
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... OMIM:613731
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:618144
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks OMIM:611809
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... OMIM:619007
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... OMIM:613862
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... OMIM:613750
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:601718
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Retinal degeneration OMIM:204500
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... ORPHA:1852
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... OMIM:615147
Oguchi Disease
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... ORPHA:75382
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... OMIM:264420
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visual loss, R... OMIM:204200
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... ORPHA:97341
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment OMIM:600790
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Birdshot Chorioretinopathy
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... ORPHA:179
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Exudative Vitreoretinopathy 3
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... OMIM:605750
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... OMIM:614292
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:617304
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration OMIM:256730
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio... ORPHA:99000
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Myopia, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration OMIM:615993
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... OMIM:617406
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... OMIM:300424
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... OMIM:616108
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Hypotaurinemia, Retinal pigment ep... OMIM:145350
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... OMIM:300476
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Retinopathy Of Prematurity
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... ORPHA:90050
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:613983
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... ORPHA:52427
Choroideremia
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Retinal degeneration OMIM:256731
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment OMIM:617236
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Nephronophthisis 14
Retinal degeneration OMIM:614844
Poretti-Boltshauser Syndrome
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia OMIM:615960
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Hsd10 Mitochondrial Disease
Visual loss, Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degeneration OMIM:300438
Mucolipidosis Iv
Photophobia, Visual impairment, Optic atrophy, Retinal degeneration OMIM:252650
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618195
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss OMIM:164500
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Myopia, Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration, A... ORPHA:370022
Abetalipoproteinemia
Abetalipoproteinemia, Retinopathy, Retinal degeneration OMIM:200100
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... OMIM:616468
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment OMIM:609508
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia, Congenital blindness ORPHA:436182
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Stickler Syndrome Type 2
Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy ORPHA:816
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Visual impairment, Retinal degeneration OMIM:604360
Aceruloplasminemia
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Retinal d... OMIM:604290
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Dec... OMIM:616959
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Kennedy Disease
Abnormal circulating lipid concentration, Testicular atrophy, Decreased fertility, Erectile dysfu... ORPHA:481
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:249270
Alg6-Cdg
Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration ORPHA:79320
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration OMIM:270700
Myopia 28, Autosomal Recessive
Retinal detachment, High myopia OMIM:619781
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal degener... OMIM:266500
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Retinopathy, Visual impairment OMIM:616171
Myopia 3, Autosomal Dominant
Retinal detachment, High myopia OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment, High myopia OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment, High myopia OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment, High myopia OMIM:608474
Scheie Syndrome
Retinal degeneration OMIM:607016
Ceroid Lipofuscinosis, Neuronal, 10
Visual loss, Rod-cone dystrophy, Retinal atrophy OMIM:610127
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... ORPHA:79264
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, High myopia OMIM:614284
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia ORPHA:35737
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... OMIM:300200
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... OMIM:615994
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi... ORPHA:1433
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Visual impairment, Elevated circulating creatine kinase concentration, Reduced visual acuity, Ret... OMIM:615249
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia OMIM:222765
Hsd10 Disease, Infantile Type
Blindness, Visual loss, Optic atrophy, Hyperammonemia, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... ORPHA:436245
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia ORPHA:83461
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... OMIM:193220
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of vision, Optic atrophy, Retinal degeneration ORPHA:442835
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma OMIM:602499
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, High myopia OMIM:610202
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... ORPHA:71505
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Abetalipoproteinemia, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral vi... ORPHA:157850
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Diplopia ORPHA:284289
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Pyruvate Dehydrogenase E2 Deficiency
Peripheral visual field loss, Retinal degeneration ORPHA:79244
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... ORPHA:168549
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation ORPHA:171844
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Reduced visual acuity, Retinal degeneration ORPHA:168491
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... OMIM:239000
Mucolipidosis Iii Alpha/Beta
Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration OMIM:252600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Aceruloplasminemia
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased... ORPHA:48818
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration OMIM:277700
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:616307
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Pseudoxanthoma Elasticum, Forme Fruste
Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener... OMIM:177850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... OMIM:250410
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Visual field defect ORPHA:166035
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog... ORPHA:94147
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... ORPHA:330015
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Hypokalemia, Increased circulating cort... ORPHA:786
Antiphospholipid Syndrome, Familial
Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ... OMIM:107320
Bardet-Biedl Syndrome 1
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera... OMIM:209900
Nephronophthisis 11
Retinal degeneration OMIM:613550
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... ORPHA:85450
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Retinal degeneration ORPHA:96179
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Knobloch Syndrome
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... ORPHA:1571
Ectopia Lentis Et Pupillae
Retinal detachment, High myopia OMIM:225200
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Elevated circulating creat... OMIM:602668
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Optic atrophy, Hyperammonemia, Hyper... ORPHA:79282
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial... ORPHA:247234
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Retinal degeneration, Visual impairment ORPHA:2822
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Elevated circulat... OMIM:236670
Norrie Disease
Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold OMIM:310600
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Visual impairment, Retinal degeneration OMIM:618479
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... ORPHA:485
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Myopia, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Hypop... OMIM:253280
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov... ORPHA:580
Hurler Syndrome
Retinal degeneration OMIM:607014
Mucopolysaccharidosis Type 3
Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Pigmentary... ORPHA:581
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Hypermetropia, Photoph... ORPHA:90324
Trichothiodystrophy
Photophobia, Macular degeneration, Myopia, Retinal degeneration ORPHA:33364
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Decre... ORPHA:191
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Decreased circulating cortisol level,... ORPHA:95699
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration OMIM:234200
Carney Complex
Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility, Precocious puberty, O... ORPHA:1359
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Oligozoospermia OMIM:614813
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy, High myopia ORPHA:97297
Cockayne Syndrome A
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... OMIM:216400
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,... ORPHA:2785
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Nyctalopia, Constriction of peripheral visual field, Macular atrophy, Hypertriglyceridemia OMIM:619418
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Visual loss, Peripheral visual field loss, Macular degeneration, Rod-cone dyst... OMIM:266920
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Retinal degeneration ORPHA:79474
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis ORPHA:3310
Cystinosis, Nephropathic
Male infertility, Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypom... OMIM:219800
Cystic Fibrosis
Male infertility, Steatorrhea OMIM:219700
Alström Syndrome
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Precocious puberty in females, Decreased re... ORPHA:64
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Brown adipose tissue - hyperplasia Agpat3tm1a(EUCOMM)Wtsi HET Early adult
Testes - process of degenerative change Agpat3tm1a(EUCOMM)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Agpat3.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hepatic Levels of DHA-Containing Phospholipids Instruct SREBP1-Mediated Synthesis and Systemic Delivery of Polyunsaturated Fatty Acids. iScience (August 2020) Agpat3tm1c(EUCOMM)Wtsi Agpat3tm1a(EUCOMM)Wtsi PMC7481256
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Agpat3tm1a(EUCOMM)Wtsi 32290105
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Agpat3tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Agpat3tm1a(EUCOMM)Wtsi PMC6459510
Lysophosphatidic acid acyltransferase 3 tunes the membrane status of germ cells by incorporating docosahexaenoic acid during spermatogenesis. The Journal of biological chemistry (June 2017) Agpat3tm1a(EUCOMM)Wtsi PMC5519358
Docosahexaenoic acid preserves visual function by maintaining correct disc morphology in retinal photoreceptor cells. The Journal of biological chemistry (June 2017) Agpat3tm1a(EUCOMM)Wtsi PMC5519357

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Agpat3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Agpat3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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