Phenotypes associated with this allele

• Allele Symbol: Abcg5^tm1Plo
• Allele Name: targeted mutation 1, Torsten Ploesch
• Allele ID: MGI:2687002
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abcg5^tm1Plo/Abcg5^tm1Plo	involves: 129P2/OlaHsd	MGI:3688387
hm2	Abcg5^tm1Plo/Abcg5^tm1Plo	involves: 129P2/OlaHsd * C57BL/6J	MGI:2687003

Genotype
MGI:3688387

hm1

• Allelic Composition: Abcg5^tm1Plo/Abcg5^tm1Plo
• Genetic Background: involves: 129P2/OlaHsd

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

homeostasis/metabolism

abnormal lipid homeostasis ( J:112995 )

• basal biliary sterol secretion rates are decreased by 82%

• basal biliary phospholipid secretion rates are decreased by 35%

abnormal cholesterol homeostasis ( J:112995 )

• expression of cholesterol metabolism genes in the liver is altered

liver/biliary system

increased liver weight ( J:112995 )

• liver weights are slightly increased, however this is not due to steatosis as triglyceride levels are not increased

abnormal bile secretion ( J:112995 )

• basal biliary sterol secretion rates are decreased by 82%

• basal biliary phospholipid secretion rates are decreased by 35%

• exhibit increased bile flow after the creation of a gallbladder fistula, however bile salt output rates and biliary bile salt composition are unaffected

abnormal liver physiology ( J:112995 )

• 45% reduction in liver sterol ester concentrations

• do not exhibit an increase in sterol secretion when fed the LXR agonist T0901317, as is seen with wild-type

growth/size/body

increased liver weight ( J:112995 )

• liver weights are slightly increased, however this is not due to steatosis as triglyceride levels are not increased

Genotype
MGI:2687003

hm2

• Allelic Composition: Abcg5^tm1Plo/Abcg5^tm1Plo
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

adipose tissue

decreased white adipose tissue amount ( J:192806 )

• less perigonadal adipose tissue

decreased fat cell size ( J:192806 )

growth/size/body

enlarged liver ( J:87209 )

• liver is slightly increased in size compared to wild-type

homeostasis/metabolism

increased circulating phytosterol level ( J:87209 )

• 37- and 7.7-fold increase of the plant sterols beta-sitosterol and campesterol , respectively, in the plasma relative to controls

• plasma levels of the plant sterols stigmasterol and brassicasterol are increased

• plasma plant sterol concentrations are further elevated when treated with the synthetic LXR agonist T0901317 unlike in wild-type where they are lowered

increased circulating triglyceride level ( J:87209 )

• plasma triglycerides are elevated, predominantly in the very-low-density lipoprotein-sized lipoprotein fractions

increased circulating VLDL triglyceride level ( J:87209 )

decreased cholesterol level ( J:87209 )

• cholesterol content is reduced in gallbladder bile

decreased circulating cholesterol level ( J:87209 )

• 60% that of controls

abnormal phospholipid level ( J:87209 )

• phospholipid concentration in the gallbladder bile is decreased, however the cholesterol/phospholipid ratio is unchanged

abnormal metabolism ( J:87209 )

• retention of orally administered radiolabeled beta-sitosterol is increased in the small intestine, liver, and plasma 24 hours after administration

liver/biliary system

enlarged liver ( J:87209 )

• liver is slightly increased in size compared to wild-type

abnormal liver physiology ( J:87209 )

• accumulation of plant sterols in the liver

• however, do not observe steatosis

reproductive system

female infertility ( J:192806 )

male infertility ( J:192806 )