Phenotypes associated with this allele

• Allele Symbol: Nr5a2^tm3.1Sjns
• Allele Name: targeted mutation 3.1, Kristina Schoonjans
• Allele ID: MGI:5607404
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr5a2^tm3.1Sjns/Nr5a2^tm3.1Sjns	B6J.B6N(Cg)-Nr5a2^tm3.1Sjns	MGI:5607405
cx2	Ldlr^tm1Her/Ldlr^tm1Her Nr5a2^tm3.1Sjns/Nr5a2^tm3.1Sjns	involves: 129S7/SvEvBrd * C57BL/6J * C57BL/6N	MGI:5607410

Genotype
MGI:5607405

hm1

• Allelic Composition: Nr5a2^tm3.1Sjns/Nr5a2^tm3.1Sjns
• Genetic Background: B6J.B6N(Cg)-Nr5a2^tm3.1Sjns

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

homeostasis/metabolism

abnormal bile salt homeostasis ( J:215556 )

• although total bile acid content in the gallbladder is normal, mice have slightly increased tauro-conjugated cholic acid and less tauro-conjugated muricholic acid

Genotype
MGI:5607410

cx2

• Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her; Nr5a2^tm3.1Sjns/Nr5a2^tm3.1Sjns
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * C57BL/6N

cardiovascular system

decreased susceptibility to atherosclerosis ( J:215556 )

• mice fed a high-cholesterol diet for 14 weeks develop less atherosclerotic plaques than single Ldlr homozygotes

homeostasis/metabolism

decreased circulating triglyceride level ( J:215556 )

• mice fed a regular diet for 14 weeks show only a slight reduction in plasma triglyceride levels compared to single Ldlr homozygotes and are unchanged upon high-cholesterol diet feeding

abnormal cholesterol homeostasis ( J:215556 )

• mice exhibit an increase in reverse cholesterol transport

increased liver cholesterol level ( J:215556 )

• mice fed a high-cholesterol diet for 14 weeks show a slight increase in hepatic cholesterol content compared to single Ldlr homozygotes, however hepatic triglyceride content is unchanged

• mice show an increase in expression of genes involved in hepatic cholesterol homeostasis

decreased cholesterol level ( J:215556 )

• mice fed a high-cholesterol diet for 14 weeks accumulate less cholesterol in their aortas than single Ldlr homozygotes

• however, total plasma cholesterol does not differ from single Ldlr homozygotes on a high-cholesterol diet

decreased circulating LDL cholesterol level ( J:215556 )

• mice fed a high-cholesterol diet for 14 weeks show a small reduction in the cholesterol content of the low-density lipoprotein subfraction compared to single Ldlr homozygotes

liver/biliary system

increased liver cholesterol level ( J:215556 )

• mice fed a high-cholesterol diet for 14 weeks show a slight increase in hepatic cholesterol content compared to single Ldlr homozygotes, however hepatic triglyceride content is unchanged

• mice show an increase in expression of genes involved in hepatic cholesterol homeostasis

abnormal bile secretion ( J:215556 )

• bile flow is increased and biliary cholesterol, bile acids, and phospholipids excretion are enhanced compared to single Ldlr homozygotes