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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 04/16/2024 MGI 6.23 |
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