Symbol
Name
ID

Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
MGI:88594

Phenotype annotations related to homeostasis/metabolism

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Mitochondrial respiratory chain defects	Abnormal circulating cholesterol concentration	Elevated CSF cholestanol concentration	Abnormal circulating enzyme concentration or activity	Increased circulating lactate concentration
Disease(s) Associated with CYP27A1
cerebrotendinous xanthomatosis

Mouse Phenotypes

homeostasis/metabolism phenotype

decreased intestinal cholesterol absorption

abnormal circulating cholesterol level

decreased circulating HDL cholesterol level

increased circulating VLDL cholesterol level

decreased circulating cholesterol level

increased circulating cholesterol level

decreased circulating triglyceride level

increased circulating triglyceride level

increased circulating VLDL triglyceride level

decreased circulating phosphate level

increased circulating alkaline phosphatase level

decreased circulating serum albumin level

improved glucose tolerance

abnormal bile salt homeostasis

decreased bile salt level

decreased cholesterol level

increased cholesterol level

increased fatty acids level

abnormal vitamin D level

increased sterol level

increased liver triglyceride level

Availability

Mouse Genotype

Cyp27a1^{tm1.1(KOMP)Vlcg}/Cyp27a1^{tm1.1(KOMP)Vlcg}

Cyp27a1^tm1Elt/Cyp27a1^tm1Elt

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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