Lith8^PERA/EiJ
QTL Variant Detail

Summary

• QTL variant: Lith8^PERA/EiJ
• Name: lithogenic gene 8; PERA/EiJ
• MGI ID: MGI:2681421
• QTL: Lith8 Location: Chr4:124264957-124265153 bp Genetic Position: Chr4, cM position of peak correlated region/allele: 57.76 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: PERA/EiJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers decreased gallstone weight compared to I/LnJ.
• Inheritance: Dominant

Notes

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

J:84582

The authors provided QTL analysis between the gallstone-susceptible wild-derived inbred strain PERA/Ei (PERA), and a resistant inbred strain, I/LnJ (I), and detected three new Lith loci which were named Lith7, Lith8 and Lith9. Lith7 mapped to mouse Chromosome10 and was associated with D10Mit12. Lith8 mapped to mouse Chromosome 4 and was associated with D4Mit12. Lth9 mapped to mouse Chromosome 17 and was associated with Abcg5. In addition to the mapping the authors provided the physical chemical and molecular basis of gallstone formation in strain PERA as compared to strain I. The analysis allowed for the identification of candidate genes underlying the QTLs. Nr1h4 underlies Lith7, and the genes encoding the canalicular cholesterol half-transporters Abcg5 and Abcg8 underlie Lith9. Whereas Nr0b2 was a suggested candidate for Lith8

References

• Original: J:84582 Wittenburg H, et al., FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice. Gastroenterology. 2003 Sep;125(3):868-81
• All: 1 reference(s)