|
Symbol Name ID |
Best1
bestrophin 1 MGI:1346332 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Vitreous hemorrhage |
Retinal arteriolar constriction |
Retinal arteriolar occlusion |
Attenuation of retinal blood vessels |
Retinal neovascularization |
Abnormality of the eye |
Microcornea |
Developmental cataract |
Pulverulent cataract |
Iris hypopigmentation |
Abnormality of chorioretinal pigmentation |
Choroidal neovascularization |
Choroideremia |
Optic disc pallor |
Cystoid macular degeneration |
Macular atrophy |
Macular dystrophy |
Vitelliform-like macular lesions |
Pigmentary retinopathy |
Retinal pigment epithelial atrophy |
Retinal detachment |
Retinal nonattachment |
Rod-cone dystrophy |
Subretinal fluid |
Drusen |
Retinal flecks |
Posterior staphyloma |
Microphthalmia |
Decreased Arden ratio of electrooculogram |
Abnormal electroretinogram |
Decreased light- and dark-adapted electroretinogram amplitude |
Strabismus |
Nystagmus |
Hypermetropia |
Abnormality of vision |
Color vision defect |
Dyschromatopsia |
Metamorphopsia |
Nyctalopia |
Photophobia |
Visual impairment |
Reduced visual acuity |
Blindness |
Moderately reduced visual acuity |
Visual field defect |
Central scotoma |
Glaucoma |
| Disease(s) Associated with BEST1 | |||||||||||||||||||||||||||||||||||||||||||||||
| autosomal dominant vitreoretinochoroidopathy | |||||||||||||||||||||||||||||||||||||||||||||||
| bestrophinopathy | |||||||||||||||||||||||||||||||||||||||||||||||
| retinitis pigmentosa 50 | |||||||||||||||||||||||||||||||||||||||||||||||
| vitelliform macular dystrophy |
| Mouse Phenotypes | vision/eye phenotype |
abnormal retina pigment epithelium morphology |
retina detachment |
abnormal eye physiology |
abnormal eye electrophysiology |
|
| Availability | Mouse Genotype | |||||
| Best1tm1.1Amar/Best1tm1.1Amar | ||||||
| Best1tm1Lmar/Best1tm1Lmar | ||||||
| Best1tm1Web/Best1tm1Web | * | |||||
| Best1tm2.1Web/Best1tm2.1Web | * | |||||
| Best1tm1.1Amar/Best1+ | ||||||
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 04/30/2024 MGI 6.23 |
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