Phenotypes Associated with This Genotype

Genotype
MGI:6715491

• Allelic Composition: Dhcr24^{tm1c(EUCOMM)Wtsi}/Dhcr24^{tm1c(EUCOMM)Wtsi}; Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * C57BL/6N

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

homeostasis/metabolism

abnormal sterol level ( J:304449 )

• tamoxifen-treated mice show a very large increase in plasma desmosterol level

• liver, brain, and heart tissue desmosterol levels are elevated in tamoxifen-treated mice

• however, liver, brain and heart tissue cholesterol levels in tamoxifen-treated mice are normal

decreased circulating cholesterol level ( J:304449 )

• mice treated with tamoxifen at 4-5 weeks of age show an early decline and stable decrease in plasma cholesterol

• however, cholesterol content of liver, brain, and heart is normal

liver/biliary system

abnormal bile composition ( J:304449 )

• bile shows elevated desmosterol levels in tamoxifen-treated mice

• tamoxifen-treated mice show lower biliary cholesterol level

endocrine/exocrine glands

abnormal bile composition ( J:304449 )

• bile shows elevated desmosterol levels in tamoxifen-treated mice

• tamoxifen-treated mice show lower biliary cholesterol level

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