Phenotypes Associated with This Genotype

Genotype
MGI:3694478

• Allelic Composition: Abcb4^tm1Bor/Abcb4^tm1Bor
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

homeostasis/metabolism

increased circulating bilirubin level ( J:114411 )

abnormal circulating enzyme level ( J:114411 )

increased circulating alanine transaminase level ( J:114411 , J:175015 )

increased circulating aspartate transaminase level ( J:114411 )

abnormal sodium ion homeostasis ( J:175015 )

• sodium concentrations in the ileal lumen are increased

abnormal lipid homeostasis ( J:114411 )

decreased intestinal cholesterol absorption ( J:114411 )

• 40% reduction in absorption efficiency

decreased circulating cholesterol level ( J:114411 )

• plasma levels reduced

increased bile salt level ( J:175015 )

• increase in concentration of bile acids in the plasma and the liver

• pool size of bile acids is increased

digestive/alimentary system

decreased intestinal cholesterol absorption ( J:114411 )

• 40% reduction in absorption efficiency

abnormal feces composition ( J:175015 )

• daily bile acid disposal in feces is decreased

abnormal intestine physiology ( J:175015 )

• mice exhibit an increase in taurocholic acid uptake in the ileum, indicating an increase in bile acid uptake

• sodium concentrations in the ileal lumen are increased

immune system

bile duct inflammation ( J:175015 )

• cholangitis

liver inflammation ( J:175015 )

• portal inflammation

liver/biliary system

focal hepatic necrosis ( J:175015 )

• focal necrosis with formation of eosinophilic bodies

bile duct inflammation ( J:175015 )

• cholangitis

liver inflammation ( J:175015 )

• portal inflammation

abnormal hepatocyte morphology ( J:175015 )

• hepatocytes show irregular nuclear polymorphism

intrahepatic cholestasis ( J:175015 )

cellular

focal hepatic necrosis ( J:175015 )

• focal necrosis with formation of eosinophilic bodies

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intrahepatic cholestasis		DOID:1852		J:175015