|
Symbol Name ID |
Ush2a
usherin MGI:1341292 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Astigmatism |
Cataract |
Posterior subcapsular cataract |
Iris hypopigmentation |
Optic atrophy |
Optic disc drusen |
Optic disc pallor |
Cystoid macular edema |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Retinal atrophy |
Rod-cone dystrophy |
Abnormality of fundus pigmentation |
Photoreceptor outer segment loss on macular OCT |
Abnormal electroretinogram |
Abnormal full-field electroretinogram |
Abnormal central response of multifocal electroretinogram |
Nystagmus |
Ophthalmoplegia |
High hypermetropia |
Myopia |
Color vision defect |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Reduced visual acuity |
Blindness |
Visual field defect |
Constriction of peripheral visual field |
Peripheral visual field loss |
Hemianopia |
Scotoma |
Visual loss |
Progressive visual loss |
Glaucoma |
| Disease(s) Associated with USH2A | |||||||||||||||||||||||||||||||||||||||||
| retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||
| retinitis pigmentosa 39 | |||||||||||||||||||||||||||||||||||||||||
| Usher syndrome | |||||||||||||||||||||||||||||||||||||||||
| Usher syndrome type 2 | |||||||||||||||||||||||||||||||||||||||||
| Usher syndrome type 2A |
| Mouse Phenotypes | abnormal retina photoreceptor morphology |
short photoreceptor inner segment |
short photoreceptor outer segment |
retina cone cell degeneration |
retina photoreceptor degeneration |
abnormal retina photoreceptor layer morphology |
abnormal eye electrophysiology |
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| Availability | Mouse Genotype | |||||||
| Ush2atm1Tili/Ush2atm1Tili | ||||||||
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 03/25/2025 MGI 6.24 |
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