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Phenotypes Associated with This Genotype
Genotype
MGI:6690698
Allelic
Composition
Dhcr7tm1.1Sbpa/Dhcr7tm1.1Sbpa
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
B6.Cg-Dhcr7tm1.1Sbpa Speer6-ps1Tg(Alb-cre)21Mgn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7tm1.1Sbpa mutation (0 available); any Dhcr7 mutation (27 available)
Speer6-ps1Tg(Alb-cre)21Mgn mutation (6 available); any Speer6-ps1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• mice show no changes in parameters of glucose homeostasis, with unaltered glucose and insulin tolerance, unaltered plasma cholesterol levels, and no changes in hepatic triglyceride secretion rates
• desmosterol secretion into bile is decreased
• 7-DHC excretion into bile is increased
• males show a small increase in levels of biliary bile acids
• however, phospholipid levels do not differ in bile or plasma
• mice exhibit an elevation of plasma levels of 7-dehydrocholesterol (DHC) and its isomer 8-DHC, and of lathosterol, and a decrease in plasma desmosterol levels
• females only show an increase in 7-dehydrodesmosterol (DHD), the immediate precursor to desmosterol
• males only show an increase in 24-dehydrolathosterol levels
• mice show altered sterol profiles in the liver, with elevated 7-DHC and 8-DHC levels
• males only show elevated levels of lathosterol and DHD in the liver
• however, no changes in levels of vitamin D3 or 25OH-vitamin D3 are seen and sterol profiles are unaltered in the brain
• the biliary sterol profile more closely mirrors the plasma sterol levels than the hepatic sterol levels
• females only show decreased levels of cholesterol and desmosterol in the liver

liver/biliary system
• females only show decreased levels of cholesterol and desmosterol in the liver
• the cholesterol content of bile is similar to controls, but 7-DHC and 8-DHC in bile are elevated
• bile shows decreased desmosterol, increased 7-dehydrodesmosterol and lathosterol, but no difference in lanosterol

growth/size/body
N
• body weight, percent body fat and lean mass (except for males at 10-14 weeks of age) are similar to wild-type
• males show a slightly lower lean body mass at 10-14 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Smith-Lemli-Opitz syndrome DOID:14692 OMIM:270400
J:303316


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
01/12/2022
MGI 6.17
The Jackson Laboratory