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Symbol
Name
ID
Dhcr7
7-dehydrocholesterol reductase
MGI:1298378
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Elevated circulating 7-dehydrocholesterol concentration
Hypocholesterolemia
Hypoalbuminemia
Hepatic steatosis
Decreased level of D-mannose in urine
Epiphyseal stippling
Disease(s) Associated with DHCR7
Behcet's disease
Smith-Lemli-Opitz syndrome

Mouse Phenotypes
homeostasis/metabolism phenotype
increased circulating corticosterone level
cyanosis
abnormal enzyme/coenzyme level
edema
hypoxia
abnormal bile salt homeostasis
increased bile salt level
abnormal cholesterol homeostasis
abnormal cholesterol level
decreased brain cholesterol level
decreased liver cholesterol level
decreased cholesterol level
abnormal lipid level
abnormal sterol level
abnormal enzyme/coenzyme activity
Availability Mouse Genotype
Dhcr7em1(IMPC)Mbp/Dhcr7em1(IMPC)Mbp
Dhcr7tm1Fdp/Dhcr7tm1Fdp
Dhcr7tm1Gst/Dhcr7tm1Gst
Dhcr7tm2Fdp/Dhcr7tm2Fdp
Dhcr7tm1Fdp/Dhcr7tm2Fdp
Dhcr7tm1.1Sbpa/Dhcr7tm1.1Sbpa
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+  (conditional)
*

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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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory