Lith5^SWR/J
QTL Variant Detail

Summary

• QTL variant: Lith5^SWR/J
• Name: lithogenic gene 5; SWR/J
• MGI ID: MGI:2176826
• QTL: Lith5 Location: Chr9:83089077-83089175 bp Genetic Position: Chr9, cM position of peak correlated region/allele: 45.34 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: SWR/J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to gallstone formation compared to AKR/J. (J:72264)
• Inheritance: Dominant

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:72264

224 (SWR/J x AKR/J)F1 x AKR/J backcross animals were screened for 92 microsatellite markers at an average spacing of 20 cM to detect QTLS associated with gallstone formation. Parental strain SWR/J is susceptible to gallstone formation when fed a lithogenic diet whereas AKR/J is resistant. A significant gallstone QTL, Lith5, was identified on mouse Chromosome 9 in linkage to D9Mit307 at approximately 43 cM. SWR/J-derived alleles confer increased gallstone score in a dominant or partially dominant manner at Lith5. Two candidate genes mapping to the Lith5 locus are Scap (Sreb cleavage-activating protein) and Lipc (hepatic lipase). Sequence analysis of Scap did not reveal differences between SWR/J and AKR/J strains. Lith5 appears to interact with loci at D6Mit14 and D15Mit26 to affect gallstone score. Suggestive loci for gallstone formation were also detected on mouse Chromosomes 1, 2, 6, and 8. A suggestive interacting marker pair, D5Mit100 and D11Mit74, was detected in linkage to gallbladder mucin gel accumulation. All suggestive loci await confirmation and futher investigation.

References

• Original: J:72264 Wittenburg H, et al., Interacting QTLs for cholesterol gallstones and gallbladder mucin in AKR and SWR strains of mice. Physiol Genomics. 2002 Feb 11;8(1):67-77
• All: 1 reference(s)