Phenotypes Associated with This Genotype

Genotype
MGI:3043817

• Allelic Composition: Atp8b1^tm1Nbf/Atp8b1^tm1Nbf
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJae

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

growth/size/body

increased susceptibility to weight loss ( J:89817 )

• on a bile salt supplemented diet homozygous mutants lose weight

postnatal growth retardation ( J:89817 )

• prior to weaning homozygous pups are growth impaired, however this size difference resolved with age

enlarged liver ( J:89817 )

• the liver is slightly enlarged in homozygous mutants

• on a bile salt supplemented diet homozygous mutants develop significantly enlarged livers with increased hepatocyte proliferation

homeostasis/metabolism

increased circulating bilirubin level ( J:89817 )

• on a bile salt supplemented diet serum bilirubin levels are elevated in homozygous mutants compared to wild-type mice

• on a normal diet serum bilirubin levels are normal in homozygous mutants

increased circulating aspartate transaminase level ( J:89817 )

• serum aspartate transaminase is mildly elevated

abnormal bile salt level ( J:89817 )

• serum bile salt levels are elevated

• on a bile salt supplemented diet homozygous mutants do not increase the rate of bile salt turnover and therefore develop much higher bile salt levels compared to wild-type mice

liver/biliary system

enlarged liver ( J:89817 )

• the liver is slightly enlarged in homozygous mutants

• on a bile salt supplemented diet homozygous mutants develop significantly enlarged livers with increased hepatocyte proliferation

abnormal bile secretion ( J:89817 )

• enhanced bile flow and output of the principal bile components

abnormal liver physiology ( J:89817 )

• on a normal diet homozygotes do dot develop jaundice or diarrhea and most liver enzyme activities are normal

• on a bile salt supplemented diet liver enzyme activities in homozygous mutants increase

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	intrahepatic cholestasis	DOID:1852		J:89817