Symbol
Name
ID

Rpgrip1
retinitis pigmentosa GTPase regulator interacting protein 1
MGI:1932134

Phenotype annotations related to vision/eye

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

Availability

Mouse Genotype

Rpgrip1^mpc269H/Rpgrip1^mpc269H

Rpgrip1^nmf247/Rpgrip1^nmf247

Rpgrip1^tm1Tili/Rpgrip1^tm1Tili

Rpgrip1^tvrm111/Rpgrip1^tvrm111

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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