Phenotypes Associated with This Genotype

Genotype
MGI:6715351

• Allelic Composition: Dhcr24^{tm1c(EUCOMM)Wtsi}/Dhcr24^{tm1c(EUCOMM)Wtsi}; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: B6.Cg-Dhcr24^{tm1c(EUCOMM)Wtsi} Speer6-ps1^{Tg(Alb-cre)21Mgn}

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

homeostasis/metabolism

abnormal sterol level ( J:304449 )

• mice exhibit elevated liver, plasma, stool, and biliary levels of desmosterol

• mice exhibit slightly elevated lanosterol levels in the liver

• however, circulating levels of cholesterol are normal, sterol levels in the brains show no differences in cholesterol or desmosterol levels, and no changes in the levels of stool cholesterol are seen

decreased liver cholesterol level ( J:304449 )

♀ • hepatic cholesterol levels are slightly decreased in females

liver/biliary system

abnormal bile composition ( J:304449 )

• biliary desmosterol level is increased

• however, no differences in levels of biliary cholesterol, bile acids or biliary phospholipids are seen

abnormal liver morphology ( J:304449 )

• liver shows elevated desmosterol level and slightly elevated lanosterol levels

• however, no differences are seen in liver cell morphology or hepatic lipid accumulation

decreased liver cholesterol level ( J:304449 )

♀ • hepatic cholesterol levels are slightly decreased in females

digestive/alimentary system

abnormal feces composition ( J:304449 )

• stool desmosterol level is increased

endocrine/exocrine glands

abnormal bile composition ( J:304449 )

• biliary desmosterol level is increased

• however, no differences in levels of biliary cholesterol, bile acids or biliary phospholipids are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
desmosterolosis		DOID:0070654	OMIM:602398	J:304449