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QTL Variant Detail
QTL variant: Lith2C57L/J
Name: lithogenic gene 2; C57L/J
MGI ID: MGI:2446826
Synonyms: Lith2s
QTL: Lith2  Location: Chr19:49992158-49992298 bp  Genetic Position: Chr19, cM position of peak correlated region/allele: 44.88 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Strain of Specimen:  C57L/J
Allele Type:    QTL
Mutation:    Undefined
    This allele confers susceptibility to gallstone formation compared to AKR/J. (J:66646)
Inheritance:    Dominant
View phenotypes and curated references for all genotypes (concatenated display).

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


Male animals from a (AKR/J x C57L/J)F1 x AKR/J backcross were typed for microsatellite markers at an average spacing of 20 cM to identify loci linked to cholesterol gallstone weight. When fed a lithogenic diet, inbred strain AKR/J is gallstone resistant while inbred strain C57L/J is gallstone susceptible. C57L/J susceptibility alleles appear to be dominant as (AKR/J x C57L/J)F1 hybrids are susceptible to gallstones when fed a lithogenic diet.

A major locus, Lith1, mapped to mouse Chromosome 2 from 30 cM - 80 cM with a LOD = 4.5 near D2Mit56 and is associated with the C57L/J-derived allele. Fig4 displays QTL interval mapping between D2Mit88 and D2Mit109 with a peak at D2Mit14a.

A second locus, Lith2, mapped to mouse Chromosome 19 from 40 cM - 85 cM with LOD =1.8 near D19Mit58 and is associated with the C57L/J-derived allele. Fig4 displays QTL interval mapping between D19Mit19 and D19Mit71 with a peak at D19Mit58.

Both loci were confirmed by constructing congenic strains carrying C57L/J-derived Lith1 or Lith2 on an AKR/J background. These congenics were named AK.L-Lith1S and AK.L-Lith1S, respectively. Both congenics retained the susceptibility phenotype of donor strain C57L/J.

A candidate gene for Lith1 is Abcb11 and a candidate gene for Lith2 isAbcc2.

Suggestive loci were also mapped to mouse Chromosome 6 with a maximum LOD = 2.3 at D6Mit25, mouse Chromosome 7 with a maximum LOD = 3.0 at D7Mit85, mouse Chromosome 8 with a maximum LOD = 1.3 at D8Mit40, mouse Chromosome 10 with a maximum LOD = 2.2 at D10Mit2, and mouse Chromosome X with a maximum LOD = 1.6 at DXMit46.

Original:  J:66646 Paigen B, et al., Quantitative trait loci mapping for cholesterol gallstones in AKR/J and C57L/J strains of mice. Physiol Genomics. 2000 Nov 9;4(1):59-65
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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