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Symbol Name ID |
Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6 MGI:1100494 |
| Darker colors indicate more annotations |
| Human Phenotypes | Retinal hemorrhage |
Retinal arteriolar constriction |
Conjunctivitis |
Keratoconjunctivitis sicca |
Abnormal eye morphology |
Abnormal cornea morphology |
Corneal ulceration |
Keratitis |
Opacification of the corneal stroma |
Band keratopathy |
Microcornea |
Lentiglobus |
Cataract |
Developmental cataract |
Hypoplasia of the iris |
Optic atrophy |
Optic disc pallor |
Abnormality of retinal pigmentation |
Pigmentary retinopathy |
Retinal degeneration |
Retinal atrophy |
Retinal dystrophy |
Uveitis |
Deeply set eye |
Anophthalmia |
Microphthalmia |
Miosis |
Abnormal electroretinogram |
Abnormality of visual evoked potentials |
Strabismus |
Nystagmus |
Hypermetropia |
Photophobia |
Visual impairment |
Progressive visual loss |
Decreased lacrimation |
Alacrima |
| Disease(s) Associated with ERCC6 | |||||||||||||||||||||||||||||||||||||
| cerebrooculofacioskeletal syndrome 1 | |||||||||||||||||||||||||||||||||||||
| Cockayne syndrome | |||||||||||||||||||||||||||||||||||||
| Cockayne syndrome B | |||||||||||||||||||||||||||||||||||||
| De Sanctis-Cacchione syndrome |
| Mouse Phenotypes | photophobia |
photosensitivity |
retina degeneration |
|
| Availability | Mouse Genotype | |||
| Ercc6tm1Gvh/Ercc6tm1Gvh | ||||
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 04/09/2024 MGI 6.23 |
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