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Strain background modifies phenotypes in the ATP8B1-deficient mouse.

Sohela Shah1, Ukina R Sanford, Julie C Vargas

  • 1UCSF Liver Center, University of California San Francisco, San Francisco, California, United States of America.

Plos One
|February 4, 2010
PubMed
Summary

Genetic background significantly impacts ATP8B1 deficiency in mice. The C57Bl/6 strain shows more severe cholestatic disease phenotypes, making it a better model for human ATP8B1 deficiency research.

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Area of Science:

  • Genetics
  • Hepatology
  • Animal Models

Background:

  • Mutations in ATP8B1 (FIC1) cause cholestatic liver diseases.
  • ATP8B1-deficient mice model human ATP8B1 deficiency.

Purpose of the Study:

  • Investigate how genetic background influences ATP8B1 deficiency phenotypes in mice.
  • Determine the optimal mouse strain for modeling human ATP8B1 deficiency.

Main Methods:

  • Compared phenotypes of ATP8B1-deficient and wild-type mice across C57Bl/6 (B6), 129, and (B6-129) F1 backgrounds.
  • Assessed weight gain, serum biochemistry, liver size, and response to cholate challenge.

Main Results:

  • ATP8B1-deficient mice on a B6 background exhibited more severe abnormalities, including reduced weight gain, lower cholesterol, higher alkaline phosphatase, and larger livers.
  • F1 and 129 backgrounds showed similar, less severe phenotypes, suggesting recessive susceptibility.
  • Differences in hepatobiliary phenotypes were also observed in wild-type mice across strains.

Conclusions:

  • The ATP8B1-deficient mouse on a B6 background is a superior model for human ATP8B1 deficiency.
  • Strain selection is critical for accurate modeling of liver diseases in mice.