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Gene: Alas1 MGI:87989

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Gene Summary

Name:
aminolevulinic acid synthase 1
Synonyms:
5-aminolevulinate synthase,  succinyl-CoA: glycine C-succinyl transferase,  Alas-1,  ALAS-N

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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, complete penetrance Alas1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged ovary Alas1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina vasculature morphology Alas1em1(IMPC)Mbp HET Early adult 8.72×10-11
abnormal ovary morphology Alas1em1(IMPC)Mbp HET Early adult 0.00
cataract Alas1em1(IMPC)Mbp HET Early adult 7.52×10-05
persistence of hyaloid vascular system Alas1em1(IMPC)Mbp HET Early adult 4.89×10-09
abnormal vitreous body morphology Alas1em1(IMPC)Mbp HET Early adult 7.12×10-05
embryonic lethality prior to organogenesis Alas1em1(IMPC)Mbp HOM   E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Alas1 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 Alas1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Vitreous hemorrhage, Chorioretinal atroph... ORPHA:891
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Cataract 42
Cataract, Developmental cataract OMIM:115900
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid macular edema, ... OMIM:611040
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of retinal pigmentation, C... ORPHA:3085
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Trichomegaly
Cataract OMIM:190330
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Hypergonadotropic hypogonadism, Polycystic ovaries, Rod-cone dystrophy, Pig... OMIM:268020
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Galactosemia Iv
Cataract, Hepatomegaly OMIM:618881
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Retinopathy, Precocious puberty, Increased pineal volume, Enlar... ORPHA:769
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism ORPHA:2745
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Peutz-Jeghers Syndrome
Cervix cancer, Enlarged polycystic ovaries, Pancreatic adenocarcinoma ORPHA:2869
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str... OMIM:194072
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchidism, Micro... OMIM:610125
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy, Hypergonadotropic hypogonadism OMIM:614307
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Hepatomegaly, Optic disc pallor, Cryptorchidism OMIM:613730
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm... ORPHA:2969
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Long penis, Enlarged ovaries, Overgrowth of ... ORPHA:508
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract ORPHA:250984
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatomegaly ORPHA:79084
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori... ORPHA:263479
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... OMIM:615986
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Cryptorchidism, I... ORPHA:139471
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Conjunctival hamartoma, Enlarged polycystic ovaries,... ORPHA:201
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Retinal dystrophy, Hyperautofluorescent mac... OMIM:209900
Cataract 47
Cataract, Microcornea OMIM:612018
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Right ventricular hy... ORPHA:335
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract OMIM:613763
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Aniridia 3
Cataract, Aniridia OMIM:617142
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Rod-cone dystrophy, Cataract OMIM:612674
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplas... ORPHA:744
Cowden Syndrome 5
Angioid streaks of the fundus, Ovarian cyst, Cataract, Goiter, Hydrocele testis OMIM:615108
Cowden Syndrome 6
Angioid streaks of the fundus, Varicocele, Ovarian cyst, Cataract, Goiter, Hydrocele testis OMIM:615109
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Hypoplasia of penis, Mic... ORPHA:899
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Cowden Syndrome 1
Angioid streaks of the fundus, Varicocele, Ovarian cyst, Cataract, Goiter, Ovarian carcinoma, Hyd... OMIM:158350
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micr... OMIM:614225
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology ORPHA:100
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Premature thelarche, Papilledema, Nodular goiter, Polycystic ovaries, Iris coloboma ORPHA:371428
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Proximal Myotonic Myopathy
Cataract ORPHA:606
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Aplasia/Hyp... ORPHA:649
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... OMIM:268315
Short Syndrome
Astigmatism, Megalocornea, Rieger anomaly, Ovarian cyst, Cataract OMIM:269880
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Iri... ORPHA:3301
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, Azoospermia, Uroge... ORPHA:1772
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology ORPHA:1227
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst OMIM:617100
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79085
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Anterior chamber cells, Retinal hemorrhage, Depigmented fu... ORPHA:79098
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Premature the... ORPHA:90795
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hepatomegaly, Precocious puberty in females, Overgrowth of external genital... ORPHA:528
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:435651
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Sclerocornea, Ca... OMIM:309801
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Coloboma, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Preeclampsia
Polycystic ovaries ORPHA:275555
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:2348
Atelis Syndrome 2
Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Cardiomegaly, Pol... ORPHA:137675
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t... ORPHA:637
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79083
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal neovascularization, Retinal cotton wool spot, Abnormal retinal vascular mo... ORPHA:247691
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Mccune-Albright Syndrome
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating growth hormone... ORPHA:562
Cystic Echinococcosis
Hepatomegaly, Ovarian cyst, Abnormality of the testis size ORPHA:400
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism OMIM:618188
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len... OMIM:619539
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79240
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circ... ORPHA:249
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:264580
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Pi... ORPHA:1359
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Bardet-Biedl Syndrome
Hydrometrocolpos, Astigmatism, Retinal dystrophy, Aplasia/Hypoplasia of the vagina, Hypoplasia of... ORPHA:110
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:280365
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... OMIM:157170
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatomegaly, Polycystic ovaries OMIM:151660
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hepatomegaly, Splenomegaly, Polycystic ovaries, Labial hypertrophy OMIM:608594
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hepatomegaly, Splenomegaly, Polycystic ovaries, Labial hypertrophy OMIM:269700
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Posterior embryotoxon, Parathyroid hypoplasia, Scleroco... OMIM:188400
Williams Syndrome
Retinal arteriolar tortuosity, Cardiomegaly, Cholelithiasis, Hypoplasia of penis, Corneal opacity... ORPHA:904
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Polycystic ovaries ORPHA:79259
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:99226
Alström Syndrome
Posterior subcapsular cataract, Decreased response to growth hormone stimulation test, Drusen, Pr... 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 Alas1

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 Alas1.

No publications found that use IMPC mice or data for Alas1.

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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
Alas1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Alas1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Alas1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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