|
Symbol Name ID |
Rpgr
retinitis pigmentosa GTPase regulator MGI:1344037 |
| * | Aspects of the system are reported to show a normal phenotype. |
| 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 |
Macular degeneration |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal pigment epithelial mottling |
Retinal degeneration |
Retinal pigment epithelial atrophy |
Rod-cone dystrophy |
Hypoautofluorescent macular lesion |
Perifoveal hypoautofluorescence |
Abnormal electroretinogram |
Nystagmus |
Ophthalmoplegia |
Myopia |
High myopia |
Color vision defect |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Reduced visual acuity |
Blindness |
Constriction of peripheral visual field |
Peripheral visual field loss |
Ring scotoma |
Glaucoma |
| Disease(s) Associated with RPGR | ||||||||||||||||||||||||||||||||
| retinitis pigmentosa | ||||||||||||||||||||||||||||||||
| retinitis pigmentosa 3 | ||||||||||||||||||||||||||||||||
| X-linked atrophic macular degeneration | ||||||||||||||||||||||||||||||||
| X-linked cone-rod dystrophy 1 | ||||||||||||||||||||||||||||||||
| X-linked retinitis pigmentosa and sinorespiratory infections |
| Mouse Phenotypes | vision/eye phenotype |
abnormal retina vasculature morphology |
decreased retina cone cell number |
abnormal photoreceptor inner segment morphology |
short photoreceptor inner segment |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
abnormal retina rod cell outer segment morphology |
disorganized photoreceptor outer segment |
abnormal retina cone cell morphology |
retina cone cell degeneration |
retina rod cell degeneration |
retina photoreceptor degeneration |
abnormal retina pigmentation |
abnormal ocular fundus morphology |
abnormal retina morphology |
abnormal retina outer nuclear layer morphology |
thin retina outer nuclear layer |
retina outer nuclear layer degeneration |
abnormal retina photoreceptor layer morphology |
retina degeneration |
abnormal eye physiology |
decreased a-wave amplitude |
decreased b-wave amplitude |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||
| RpgrRd9/RpgrRd9 | |||||||||||||||||||||||||||
| Rpgrtm1.1Sgj/Rpgrtm1.1Sgj | |||||||||||||||||||||||||||
| Rpgrtm1Tili/Rpgrtm1Tili | |||||||||||||||||||||||||||
| Rpgrtm1Tili/Rpgrtm1Tili Tg(CMV-Rpgr)1Tili/0 |
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| Tg(CAG-Rpgr)mRDefWrght/0 Rpgrtm1Tili/Rpgrtm1Tili |
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| Tg(CAG-Rpgr)mROrfWrght/0 Rpgrtm1Tili/Rpgrtm1Tili |
* | ||||||||||||||||||||||||||
| Rpgrtm1Wbrg/Rpgrtm1Wbrg | * | ||||||||||||||||||||||||||
| Tg(CMV-Rpgr)1Tili/Tg(CMV-Rpgr)1Tili | |||||||||||||||||||||||||||
| RpgrRd9/Rpgr+ | |||||||||||||||||||||||||||
| RpgrRd9/Y | |||||||||||||||||||||||||||
| Rpgrtm1.1Sgj/Y | |||||||||||||||||||||||||||
| Tg(CAG-Rpgr)mRDefWrght/0 | |||||||||||||||||||||||||||
| Tg(CMV-Rpgr)1Tili/0 | |||||||||||||||||||||||||||
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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