Symbol Name ID |
Ercc8
excision repaiross-complementing rodent repair deficiency, complementation group 8 MGI:1919241 |
Darker colors indicate more annotations |
Human Phenotypes | Increased cellular sensitivity to UV light |
Increased blood urea nitrogen |
Hyperuricemia |
Abnormal circulating porphyrin concentration |
Elevated circulating hepatic transaminase concentration |
Diabetes mellitus |
Abnormality of temperature regulation |
Proteinuria |
Vascular calcification |
Atypical scarring of skin |
Scarring |
Cerebellar dentate nucleus calcification |
Cerebral calcification |
Basal ganglia calcification |
Subcortical white matter calcifications |
Disease(s) Associated with ERCC8 | |||||||||||||||
Cockayne syndrome | |||||||||||||||
Cockayne syndrome A | |||||||||||||||
UV-sensitive syndrome |
Mouse Phenotypes | photophobia |
abnormal DNA repair |
increased circulating HDL cholesterol level |
increased circulating cholesterol level |
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Availability | Mouse Genotype | ||||
Ercc8em1(IMPC)H/Ercc8em1(IMPC)H | |||||
Ercc8tm1Jhjh/Ercc8tm1Jhjh |
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 08/02/2024 MGI 6.24 |
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