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Symbol
Name
ID

Col6a3
collagen, type VI, alpha 3
MGI:88461

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Elevated circulating creatine kinase concentration	Mildly elevated creatine kinase	Carnosinuria
Disease(s) Associated with COL6A3	Elevated circulating creatine kinase concentration	Mildly elevated creatine kinase	Carnosinuria
Bethlem myopathy
muscular dystrophy
Ullrich congenital muscular dystrophy

Mouse Phenotypes		increased circulating LDL cholesterol level	abnormal cholesterol homeostasis
Availability	Mouse Genotype
	Col6a3^{em1(IMPC)Kmpc}/Col6a3^{em1(IMPC)Kmpc}

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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