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

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Viewing: all phenotypes

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
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract 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
Micropenis, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d... ORPHA:363741
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cataract 42
Cataract, Developmental cataract OMIM:115900
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... 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
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidism, Polycys... ORPHA:3085
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Trichomegaly
Cataract OMIM:190330
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Subcapsular cataract, Polycystic ovaries, Rod-cone dystrophy, Hypergonado... OMIM:268020
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Galactosemia Iv
Hepatomegaly, Cataract OMIM:618881
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Polycystic ovaries ORPHA:1643
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonado... ORPHA:64739
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Retinopathy, Enlarged ovaries, Increased pi... ORPHA:769
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia, Cataract ORPHA:3173
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Insulin-Resistance Syndrome Type B
Enlarged polycystic ovaries, Enlarged ovaries, Abnormal salivary gland morphology, Polycystic ova... ORPHA:2298
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Opitz Gbbb Syndrome
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias ORPHA:2745
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer ORPHA:2869
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... OMIM:194072
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Coloboma, Micropenis, Retinal... OMIM:610125
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Hypergonadotropic hypogonadism, Rod-cone dystrophy OMIM:614307
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cryptorchidism, Cataract OMIM:613730
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... ORPHA:2969
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma ORPHA:523
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Leprechaunism
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... ORPHA:508
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... ORPHA:95699
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy ORPHA:250984
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Sclerocornea, Iris coloboma, Retin... ORPHA:139471
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Cowden Syndrome
Abnormal penis morphology, Cataract, Abnormality of the uterus, Goiter, Endometrial carcinoma, En... ORPHA:201
Bardet-Biedl Syndrome 1
Cataract, Abnormality of the ovary, Decreased testicular size, Hyperautofluorescent macular lesio... OMIM:209900
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma ORPHA:314478
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Developmental ... ORPHA:335
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Aniridia 3
Cataract, Aniridia OMIM:617142
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Central ... ORPHA:744
Cowden Syndrome 5
Cataract, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hydrocele testis OMIM:615108
Cowden Syndrome 6
Varicocele, Cataract, Goiter, Angioid streaks of the fundus, Ovarian cyst, 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
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Walker-Warburg Syndrome
Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Cryptorchidism, Retinal de... ORPHA:899
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Cowden Syndrome 1
Varicocele, Cataract, Goiter, Angioid streaks of the fundus, Ovarian cyst, Ovarian carcinoma, Hyd... OMIM:158350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Warburg Micro Syndrome 2
Optic atrophy, Small scrotum, Cataract, Microcornea, Cryptorchidism, Hypoplastic labia majora, De... OMIM:614225
Ataxia-Telangiectasia
Abnormal testis morphology, Polycystic ovaries ORPHA:100
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Polycystic ovaries, Premature thelarche, Papilledema, Nodular goiter, Iris coloboma ORPHA:371428
Proximal Myotonic Myopathy
Cataract ORPHA:606
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Short Syndrome
Cataract, Megalocornea, Rieger anomaly, Astigmatism, Ovarian cyst OMIM:269880
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ... ORPHA:649
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cataract, Microcornea, Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Iri... ORPHA:3301
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst OMIM:246200
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova... ORPHA:90795
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Polycystic... ORPHA:528
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Abnormal labia majora morphology ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Pigmentary retinopathy, Clitoral hypertrophy, Cataract, Peters anomaly, Ovotestis,... OMIM:309801
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea, Hypospadias OMIM:615877
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Preeclampsia
Polycystic ovaries ORPHA:275555
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:2348
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Atelis Syndrome 2
Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Histiocytoid Cardiomyopathy
Optic atrophy, Megalocornea, Polycystic ovaries, Cardiomegaly, Corneal opacity, Congenital aphaki... ORPHA:137675
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:79083
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... ORPHA:247691
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Mccune-Albright Syndrome
Precocious puberty, Increased circulating prolactin concentration, Goiter, Ovarian cyst, Hyperpla... ORPHA:562
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Ovarian cyst ORPHA:400
Peutz-Jeghers Syndrome
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor OMIM:175200
Microphthalmia, Syndromic 2
Iris coloboma, Microcornea, Septate vagina, Cryptorchidism, Retinal detachment, Remnants of the h... OMIM:300166
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal... OMIM:619539
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:79240
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon... ORPHA:249
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:264580
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Bardet-Biedl Syndrome
Cataract, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreased testicular ... ORPHA:110
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:280365
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... OMIM:157170
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatomegaly, Polycystic ovaries OMIM:151660
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepatomegaly OMIM:608594
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepatomegaly OMIM:269700
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... OMIM:188400
Williams Syndrome
Precocious puberty, Cataract, Cholelithiasis, Megalocornea, Retinal arteriolar tortuosity, Crypto... ORPHA:904
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Enlarged kidney, Polycystic ovaries ORPHA:79259
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Gonadoblastoma, Neck pterygia, Increased circulating gonadotropin level ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Gonadoblastoma, Neck pterygia, Increased circulating gonadotropin level ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Gonadoblastoma, Neck pterygia, Increased circulating gonadotropin level ORPHA:99228
Monosomy X
Abnormality of the ovary, Gonadoblastoma, Neck pterygia, Increased circulating gonadotropin level ORPHA:99226
Alström Syndrome
Testicular fibrosis, Cataract, Precocious puberty in females, Posterior subcapsular cataract, Hyp... 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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