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Symbol
Name
ID
Impdh1
inosine monophosphate dehydrogenase 1
MGI:96567
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Posterior subcapsular cataract
Bone spicule pigmentation of the retina
Rod-cone dystrophy
Optic disc pallor
Undetectable light- and dark-adapted electroretinogram
Nystagmus
Nyctalopia
Visual impairment
Reduced visual acuity
Constriction of peripheral visual field
Disease(s) Associated with IMPDH1
Leber congenital amaurosis 11
retinitis pigmentosa 10

Mouse Phenotypes
abnormal retina inner limiting membrane morphology
abnormal retina outer limiting membrane morphology
thin retinal outer nuclear layer
decreased total retina thickness
Availability Mouse Genotype
Impdh1m1Btlr/Impdh1m1Btlr

Contributing Projects:
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
09/17/2019
MGI 6.14
The Jackson Laboratory