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Lith6DBA/2J
QTL Variant Detail
Summary
QTL variant: Lith6DBA/2J
Name: lithogenic gene 6; DBA/2J
MGI ID: MGI:2682407
QTL: Lith6  Location: Chr6:115694477-115694676 bp  Genetic Position: Chr6, cM position of peak correlated region/allele: 77.64 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Variant
origin
Strain of Specimen:  DBA/2J
Variant
description
Allele Type:    QTL
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Notes

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

J:85813

Linkage analysis was performed on a population of (CAST/Ei x DBA/2J)F2 animals to identify QTLs associated with cholesterol gallstones. Parental strain CAST/Ei is susceptible to gallstone formation whereas parental strain DBA/2 is resistant. Interestingly, (CAST/Ei x DBA/2J)F1 females are completely resistant to gallstone formation whereas F2 males exhibit 100% incidence of cholesterol gallstones. Animals were placed on a lithogenic diet for 8 weeks to promote the gallstone phenotype. CAST/Ei parentals also exhibit increased hepatic bile cholesterol concentration compared to parental strain DBA/2J.

A significant QTL on chromosome 2 was identified that colocalized with the previoulsy identified Lith1 QTL. [Curator note: Because Lith1 was originally mapped using a (AKR/J x C57L/J)F1 x AKR/J backcross (J:66646), we consider the current study a separate mapping experiment and have named the QTL Lith24.] Lith24 mapped to mouse Chromosome 2 at D2Mit94. Lith24 reached significant linkage to gallstone presenceat 52 cM with LOD=3.8 and reached suggestive linkage to aggregated cholesterol monohydrate crystals at 46 cM with LOD=2.8. The QTL range of Lith24 extends from 40 cM - 60 cM on mouse Chromosome 2. DBA/2J-derived alleles confer dominantly inherited susceptibility to cholesterol gallstone formation at Lith24.

A novel QTL named Lith6 was identified in association with aggregated cholesterol monohydrate crystals at 54 cM on mouse Chromosome 6 with LOD=3.8 at D6Mit62. The QTL range of Lith6 extends from 40 cM- 70 cM. CAST/Ei-derived alleles confer dominantly inherited susceptibility to cholesterol gallstone formation at Lith6. Slco1a1 and Pparg are candidate genes for Lith6 and both show differential expression between CAST/Ei and DBA/2J.

Another novel QTL on proximal mouse Chromosome 6 near D6Mit86, Lith10, is linked to gallstone number reaching peak significance at 4 cM with LOD=3.6. Lith10 is also suggestively linked to gallstone presence at 0 cM with LOD=2.8. The QTL range of Lith10 extends from approximately 0 cM - 10 cM. DBA/2J-derived alleles confer recessively inherited susceptibility to gallstone formation at Lith10.

Lith11 mapped to 58 cM on mouse Chromosome 8 in association with gallstone number. Lith11 reached peak significance at D8Mit88 with LOD=3.3. The QTL range of Lith11 extends from 48 cM - 60 cM. DBA/2J-derived alleles confer recessively inherited susceptibility to gallstone formation at Lith11.

References
Original:  J:85813 Lyons MA, et al., Lith6: a new QTL for cholesterol gallstones from an intercross of CAST/Ei and DBA/2J inbred mouse strains. J Lipid Res. 2003 Sep;44(9):1763-71
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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory