Quantitative trait loci mapping for cholesterol gallstones in AKR/J and C57L/J strains of mice

Beverly Paigen, Nicholas J. Schork, Karen L. Svenson, Yin Chai Cheah, Jian Long Mu, Frank Lammert, David Q.H. Wang, Guylaine Bouchard, Martin C. Carey

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Quantitative trait locus (QTL) mapping was used to locate genes that determine the difference in cholesterol gallstone disease between the gallstone-susceptible strain C57L/J and the gallstone-resistant strain AKR/J. Gallstone weight was determined in 231 male (AKR × C57L) F1 × AKR backcross mice fed a lithogenic diet containing 1% cholesterol, 0.5% cholic acid, and 15% butterfat for 8 wk. Mice having no stones and mice having the largest stones were genotyped at ∼20-cM intervals to find the loci determining cholesterol gallstone formation. The major locus, Lith1, mapped near D2Mit56 and was confirmed by constructing a congenic strain, AK.L-Lith1s. Another locus, Lith2, mapped near D19Mit58 and was also confirmed by constructing a congenic strain AK.L-Lith2s. Other suggestive, but not statistically significant, loci mapped to chromosomes 6, 7, 8, 10, and X. The identification of these Lith genes will elucidate the pathophysiology of cholesterol gallstone formation.

Original languageEnglish (US)
Pages (from-to)59-65
Number of pages7
JournalPhysiological genomics
Issue number4
StatePublished - Feb 2001
Externally publishedYes


  • Abcb11
  • Abcc2
  • Congenic
  • Gallbladder
  • Genetics
  • Recombinant inbred strain

ASJC Scopus subject areas

  • Physiology
  • Genetics


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