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Gene: Slc1a3 MGI:99917

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Gene Summary

Name:
solute carrier family 1 (glial high affinity glutamate transporter), member 3
Synonyms:
Eaat1,  B430115D02Rik,  GLAST,  Gmt1,  MGluT1

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
increased vertical activity Slc1a3tm1.1(KOMP)Mbp HET Early adult 9.25×10-05
abnormal sleep behavior Slc1a3tm1.1(KOMP)Mbp HET   Early adult 6.34×10-05

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
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote Not available
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Trachea  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart 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 Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine 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)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 50% (1 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

24 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Sleep Wake

Wake state (bmp file)

12 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images
PDF thumbnail PDF
Electroretinography

Rod waveform (pdf format)

3 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

View images
PDF thumbnail PDF
Electroretinography

Cone waveform (pdf format)

3 Images

View images

Human diseases caused by Slc1a3 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.

The table below shows human diseases associated to Slc1a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Episodic Ataxia Type 6
Cerebellar atrophy, Seizure, Vertigo, Ataxia ORPHA:209967
Episodic Ataxia, Type 6
Cerebellar atrophy, Vertigo, Seizure, Cerebellar hypoplasia, Truncal ataxia, Episodic ataxia OMIM:612656
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Chorea, Focal motor seizure, Choreoathetosis, Seizure, EE... ORPHA:2131

The table below shows human diseases predicted to be associated to Slc1a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Schizophrenia 15
Hyperactivity OMIM:613950
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Choroidal neovascularization, Drusen, Decreased nerve conduction ve... OMIM:608895
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration OMIM:275400
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Nephronophthisis 14
Retinal degeneration OMIM:614844
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Optic Atrophy 6
Optic atrophy OMIM:258500
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia OMIM:246000
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Abetalipoproteinemia
Retinopathy, Peripheral demyelination, Retinal degeneration OMIM:200100
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
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
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Macular degeneration, Retinal degeneration OMIM:604360
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
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot... OMIM:125250
Scheie Syndrome
Retinal degeneration OMIM:607016
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370022
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Leukoencephalopathy With Ataxia
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy OMIM:615651
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy, Sensory axonal neuropathy OMIM:610127
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Peripheral axonal neuropathy, Retinal degeneration OMIM:270700
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Aceruloplasminemia
Retinal degeneration OMIM:604290
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Hypoplasia of the pons, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked... OMIM:617523
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Seizure, Cer... ORPHA:3240
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Retinal degeneration OMIM:615249
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, EEG with generalized slow activ... ORPHA:99027
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... ORPHA:206448
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Narcolepsy 3
Narcolepsy OMIM:609039
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Chronic Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Nephronophthisis 11
Retinal degeneration OMIM:613550
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Narcolepsy 1
Narcolepsy OMIM:161400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Multiple Sulfatase Deficiency
Peripheral demyelination, Retinal degeneration OMIM:272200
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Seizure, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia OMIM:616881
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Abnormal cerebellar peduncle ... ORPHA:909
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Werner Syndrome
Retinal degeneration OMIM:277700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
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, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... OMIM:236670
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Narcolepsy 7
Narcolepsy OMIM:614250
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Anterior Segment Dysgenesis 8
Optic nerve dysplasia OMIM:617319
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... ORPHA:247234
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Seizure, Macrotia, Abnormality of per... ORPHA:90321
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Per... ORPHA:79282
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Orthostatic hypotension, Retinal degeneration ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Hypoplasia of... OMIM:253280
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Knobloch Syndrome
Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Seizure, Optic atrophy ORPHA:79330
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Retinal hemo... ORPHA:90324
Hurler Syndrome
Retinal degeneration OMIM:607014
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration OMIM:234200
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... OMIM:216400
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Cerebellar calcifications... OMIM:133540
Episodic Ataxia Type 6
Cerebellar atrophy, Seizure, Vertigo, Ataxia ORPHA:209967
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip... ORPHA:191
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:581
Episodic Ataxia, Type 6
Cerebellar atrophy, Vertigo, Seizure, Cerebellar hypoplasia, Truncal ataxia, Episodic ataxia OMIM:612656
Mend Syndrome
Abnormal auditory evoked potentials, Dandy-Walker malformation, Seizure, Low-set ears ORPHA:401973
Trichothiodystrophy
Macular degeneration, Retinal degeneration ORPHA:33364
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,... ORPHA:2785
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Retinal dysplasia, Elevated circulating creatine kinase concentration OMIM:615287
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Attenuation of retinal blood vessels OMIM:266920
Niemann-Pick Disease Type C
Ataxia, Aggressive behavior, Narcolepsy, Progressive gait ataxia, Gait disturbance, Disinhibition... ORPHA:646
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Narcolepsy, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyp... ORPHA:293987
African Trypanosomiasis
Akinesia, Aggressive behavior, Narcolepsy, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Chorea, Focal motor seizure, Choreoathetosis, Seizure, EE... ORPHA:2131
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64

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.

There is no histopathology data for Slc1a3

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 Slc1a3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Slc1a3tm1(KOMP)Mbp PMC4739719

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MGI Allele Allele Type Produced
Slc1a3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Slc1a3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc1a3tm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Slc1a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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