Symbol Name ID |
Rpgrip1
retinitis pigmentosa GTPase regulator interacting protein 1 MGI:1932134 |
Darker colors indicate more annotations |
Human Phenotypes | Photophobia |
Ataxia |
Postural tremor |
Intellectual disability |
Hyperreflexia |
Dystonia |
Polyneuropathy |
Disease(s) Associated with RPGRIP1 | |||||||
cone-rod dystrophy 13 | |||||||
Leber congenital amaurosis 6 | |||||||
Leber hereditary optic neuropathy | |||||||
retinitis pigmentosa |
Mouse Phenotypes | short photoreceptor inner segment |
abnormal photoreceptor outer segment morphology |
absent photoreceptor outer segment |
disorganized photoreceptor outer segment |
retina photoreceptor degeneration |
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Availability | Mouse Genotype | |||||
Rpgrip1nmf247/Rpgrip1nmf247 | ||||||
Rpgrip1tm1Tili/Rpgrip1tm1Tili | ||||||
Rpgrip1tvrm111/Rpgrip1tvrm111 |
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 04/23/2024 MGI 6.23 |
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