Genome-wide scan for modifier genes of liver fibrosis in Abcb4/Mdr2 deficient mice

Aims: In a various cholestatic liver diseases including progressive intrahepatic familial cholestasis mutations in the ATP-binding cassette transporter gene ABCB4 encoding the hepatic phospholipid flippase have been identified. Of note, the phenotypic presentation of patients harboring ABCB4 mutations differs markedly, and no genotype-phenotype correlations could be established. To identify potential modifier genes, Abcb4/Mdr2 knock-out mice were backcrossed on two different genetic backgrounds (BALB/cJ, FVB/NJ) that strongly differ in their propensity to develop liver fibrosis. Material and methods: Spontaneous…