Symbol Name ID |
Impdh1
inosine monophosphate dehydrogenase 1 MGI:96567 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Posterior subcapsular cataract |
Optic atrophy |
Optic disc pallor |
Bull's eye maculopathy |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Geographic atrophy |
Rod-cone dystrophy |
Abnormal electroretinogram |
Undetectable light- and dark-adapted electroretinogram |
Nystagmus |
Ophthalmoplegia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Reduced visual acuity |
Blindness |
Constriction of peripheral visual field |
Peripheral visual field loss |
Glaucoma |
Disease(s) Associated with IMPDH1 | ||||||||||||||||||||||||||
Leber congenital amaurosis 11 | ||||||||||||||||||||||||||
retinitis pigmentosa | ||||||||||||||||||||||||||
retinitis pigmentosa 10 |
Mouse Phenotypes | abnormal retina inner limiting membrane morphology |
thin retina outer nuclear layer |
abnormal retina outer limiting membrane morphology |
decreased total retina thickness |
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Availability | Mouse Genotype | ||||
Impdh1m1Btlr/Impdh1m1Btlr |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/03/2024 MGI 6.24 |
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