Symbol Name ID |
Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1 MGI:88594 |
* | 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 |
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Availability | Mouse Genotype | ||||||||||||||||||||||
Cyp27a1tm1.1(KOMP)Vlcg/Cyp27a1tm1.1(KOMP)Vlcg | |||||||||||||||||||||||
Cyp27a1tm1Elt/Cyp27a1tm1Elt | * |
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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