Phenotypes associated with this allele

• Allele Symbol: Dhcr7^tm1.1Sbpa
• Allele Name: targeted mutation 1.1, Shailendra B Patel
• Allele ID: MGI:6515762
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dhcr7^tm1.1Sbpa/Dhcr7^tm1.1Sbpa Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	B6.Cg-Dhcr7^tm1.1Sbpa Speer6-ps1^Tg(Alb-cre)21Mgn	MGI:6690698

Genotype
MGI:6690698

cn1

• Allelic Composition: Dhcr7^tm1.1Sbpa/Dhcr7^tm1.1Sbpa; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: B6.Cg-Dhcr7^tm1.1Sbpa Speer6-ps1^{Tg(Alb-cre)21Mgn}

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:303316 )

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

abnormal bile salt homeostasis ( J:303316 )

• desmosterol secretion into bile is decreased

• 7-DHC excretion into bile is increased

increased bile salt level ( J:303316 )

♂ • males show a small increase in levels of biliary bile acids

♂ • however, phospholipid levels do not differ in bile or plasma

abnormal sterol level ( J:303316 )

• 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

decreased liver cholesterol level ( J:303316 )

• females only show decreased levels of cholesterol and desmosterol in the liver

liver/biliary system

decreased liver cholesterol level ( J:303316 )

• females only show decreased levels of cholesterol and desmosterol in the liver

abnormal bile composition ( J:303316 )

• 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

growth/size/body region phenotype ( J:303316 )

N • body weight, percent body fat and lean mass (except for males at 10-14 weeks of age) are similar to wild-type

decreased lean body mass ( J:303316 )

♂ • 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