All Phenotypes Dhcr24<tm1c(EUCOMM)Wtsi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dhcr24^{tm1c(EUCOMM)Wtsi}/Dhcr24^{tm1c(EUCOMM)Wtsi} Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺	B6.Cg-Dhcr24^{tm1c(EUCOMM)Wtsi} Speer6-ps1^{Tg(Alb-cre)21Mgn}	MGI:6715351
cn2	Dhcr24^{tm1c(EUCOMM)Wtsi}/Dhcr24^{tm1c(EUCOMM)Wtsi} Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * C57BL/6N	MGI:6715491

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr24^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Dhcr24 mutation (35 available)
Gt(ROSA)26Sor^{tm1(cre/ERT)Nat} mutation (3 available); any Gt(ROSA)26Sor mutation (1046 available)

♀	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

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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