Symbol Name ID |
Rpgrip1
retinitis pigmentosa GTPase regulator interacting protein 1 MGI:1932134 |
Darker colors indicate more annotations |
Human Phenotypes | Central retinal vessel vascular tortuosity |
Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Cataract |
Posterior subcapsular cataract |
Optic atrophy |
Optic disc pallor |
Leber optic atrophy |
Optic neuropathy |
Macular degeneration |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Cone/cone-rod dystrophy |
Abnormal electroretinogram |
Undetectable light- and dark-adapted electroretinogram |
Undetectable electroretinogram |
Nystagmus |
Pendular nystagmus |
Ophthalmoplegia |
High hypermetropia |
Color vision defect |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Reduced visual acuity |
Blindness |
Severely reduced visual acuity |
Peripheral visual field loss |
Centrocecal scotoma |
Visual loss |
Glaucoma |
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 |
thin retina outer nuclear layer |
increased susceptibility to age-related retinal degeneration |
retina degeneration |
retina spots |
vitreal fibroplasia |
abnormal electroretinogram waveform feature |
decreased a-wave amplitude |
decreased b-wave amplitude |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
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Availability | Mouse Genotype | |||||||||||||||
Rpgrip1mpc269H/Rpgrip1mpc269H | ||||||||||||||||
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 05/14/2024 MGI 6.23 |
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