Phenotypes Associated with This Genotype

Genotype
MGI:3514172

• Allelic Composition: Abcg8^tm1Elk/Abcg8^tm1Elk
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

adipose tissue

decreased white adipose tissue amount ( J:192806 )

• less periorgan adipose tissue

decreased fat cell size ( J:192806 )

homeostasis/metabolism

increased circulating free fatty acids level ( J:192806 )

• phenotype was reversed when rodent chow was fortified with ezetimibe, a drug that blocks dietary sterol absorption by >90%

increased circulating phytosterol level ( J:94759 )

• 8-fold increase of plasma campesterol relative to controls

• 36-fold increase of plasma sitosterol relative to controls

increased circulating triglyceride level ( J:94759 )

• higher triglyceride levels in fasted mutants fed a regular diet

decreased cholesterol level ( J:94759 )

• decrease in plasma, liver, and spleen cholesterol levels

decreased circulating cholesterol level ( J:94759 )

• 52% decrease in plasma cholesterol levels

reproductive system

female infertility ( J:192806 )

♀ • phenotype was reversed when rodent chow was fortified with ezetimibe, a drug that blocks dietary sterol absorption by >90%

male infertility ( J:192806 )

♂ • phenotype was reversed when rodent chow was fortified with ezetimibe, a drug that blocks dietary sterol absorption by >90%

liver/biliary system

abnormal hepatobiliary system physiology ( J:94759 )

• 50% decrease in liver cholesterol content

• 5-fold and 22-fold increase in liver campesterol and sitosterol content, respectively

• reduced biliary sterol and phospholipid content

• under conditions that force biliary sterol secretion, cholesterol secretion into bile was diminished but sitosterol and campesterol secretion was maintained

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sitosterolemia		DOID:0090019	OMIM:210250	J:94759