|
Symbol Name ID |
Chm
CHM Rab escort protein MGI:892979 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Attenuation of retinal blood vessels |
Abnormality of the eye |
Chorioretinal degeneration |
Chorioretinal atrophy |
Choroideremia |
Granular macular appearance |
Abnormality of retinal pigmentation |
Pigmentary retinopathy |
Bone spicule pigmentation of the retina |
Nummular pigmentation of the fundus |
Retinal pigment epithelial mottling |
Hypopigmentation of the fundus |
Abnormal electroretinogram |
Myopia |
Abnormality of vision |
Nyctalopia |
Visual impairment |
Constriction of peripheral visual field |
Progressive visual loss |
| Disease(s) Associated with CHM | |||||||||||||||||||
| choroideremia |
| Mouse Phenotypes | vision/eye phenotype |
decreased retina photoreceptor cell number |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
retina photoreceptor degeneration |
abnormal retina pigment epithelium morphology |
abnormal retina pigmentation |
abnormal retina morphology |
thin retina outer nuclear layer |
abnormal rod electrophysiology |
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| Availability | Mouse Genotype | ||||||||||
| Chmtm1.2Seab/Chm+ | |||||||||||
| Chmtm1.3Seab/Chm+ | |||||||||||
| Chmtm1Jvdh/Chm+ | * | ||||||||||
| Chmtm1.1Seab/Chmtm1.1Seab Tg(Six3-cre)69Frty/0 (conditional) |
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| Chmtm1.1Seab/Y Tg(Six3-cre)69Frty/0 (conditional) |
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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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