Strain background modifies phenotypes in the ATP8B1-deficient mouse.

PloS One
Sohela ShahLaura N Bull

Abstract

Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis). The ATP8B1-deficient mouse serves as an animal model of human ATP8B1 deficiency. We investigated the effect of genetic background on phenotypes of ATP8B1-deficient and wild-type mice, using C57Bl/6 (B6), 129, and (B6-129) F1 strain backgrounds. B6 background resulted in greater abnormalities in ATP8B1-deficient mice than did 129 and/or F1 background. ATP8B1-deficient pups of B6 background gained less weight. In adult ATP8B1-deficient mice at baseline, those of B6 background had lower serum cholesterol levels, higher serum alkaline phosphatase levels, and larger livers. After challenge with cholate-supplemented diet, these mice exhibited higher serum alkaline phosphatase and bilirubin levels, greater weight loss and larger livers. ATP8B1-deficient phenotypes in mice of F1 and 129 backgrounds are usually similar, suggesting that susceptibility to manifestations of ATP8B1 deficiency may be recessive. We also detected differences in hepatobiliary phenotypes between wild-type mice of differing strains. Our results indicate t...Continue Reading

References

Sep 1, 1972·The Journal of Pediatrics·L G LinarelliM J Phillips
Nov 5, 1998·The Journal of Clinical Investigation·R P ElferinkA K Groen
Nov 28, 2000·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·L W KlompR H Houwen
Oct 5, 2001·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·P UjhazyI M Arias
Jul 9, 2004·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Leo W J KlompLaura N Bull
Jun 27, 2006·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Coen C PaulusmaRonald P J Oude Elferink
Apr 24, 2007·Journal of Hepatology·Annemiek GroenRonald P J Oude Elferink
Oct 24, 2007·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Coen C PaulusmaRonald P J Oude Elferink
May 10, 2008·Gastroenterology·Annemiek GroenRonald P J Oude Elferink
Feb 21, 2009·The Journal of Biological Chemistry·Coen C PaulusmaRonald P J Oude Elferink
Mar 4, 2009·Biochimica Et Biophysica Acta·Dineke E FolmerCoen C Paulusma
Mar 17, 2009·Biochimica Et Biophysica Acta·Baby-Periyanayaki MuthusamyTodd R Graham
May 8, 2010·Journal of Hepatology·Ludmila PawlikowskaLaura N Bull

❮ Previous
Next ❯

Citations

Jul 30, 2014·Laboratory Investigation; a Journal of Technical Methods and Pathology·Cindy KunneCoen C Paulusma
Dec 25, 2012·Atherosclerosis·Wu-Jun ChenChao-Ke Tang
May 6, 2016·PloS One·Janice M Staber, Molly J Pollpeter
Feb 23, 2012·Psychopharmacology·Jessica Ruiz-MedinaEmilio Fernandez-Espejo
Apr 1, 2015·Journal of Pediatric Gastroenterology and Nutrition·Amy L MorrisBenjamin L Shneider
Mar 2, 2016·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Dirk R de WaartCoen C Paulusma

❮ Previous
Next ❯

Methods Mentioned

BETA
targeted mutations
Assay

Software Mentioned

PRISM
Excel
R

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

ApoE, Lipids & Cholesterol

Serum cholesterol, triglycerides, apolipoprotein B (APOB)-containing lipoproteins (very low-density lipoprotein (VLDL), immediate-density lipoprotein (IDL), and low-density lipoprotein (LDL), lipoprotein A (LPA)) and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are all connected in diseases. Here is the latest research.