Symbol
Name
ID

Ercc8
excision repaiross-complementing rodent repair deficiency, complementation group 8
MGI:1919241

Phenotype annotations related to homeostasis/metabolism

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
Availability	Mouse Genotype	photophobia	abnormal DNA repair	increased circulating HDL cholesterol level	increased circulating cholesterol level
	Ercc8^em1(IMPC)H/Ercc8^em1(IMPC)H
	Ercc8^tm1Jhjh/Ercc8^tm1Jhjh

Contributing Projects: 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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