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Lith7PERA/EiJ
QTL Variant Detail
Nomenclature
QTL variant: Lith7PERA/EiJ
Name: lithogenic gene 7; PERA/EiJ
MGI ID: MGI:2681419
QTL: Lith7  Location: Chr10:99309418-99309657 bp  Genetic Position: Chr10, cM position of peak correlated region/allele: 51.15 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

Candidate Genes

J:129298

Previously identified gallstone susceptibility QTL Lith7 mapped to 50 cM on mouse Chromosome 10 in a PERA/EiJ (gallstone susceptible) and I/LnJ (gallstone resistant) cross. Nr1h4 (50 cM) was identified as a positional candidate gene. Authors further investigated Nr1h4 by sequence and expression analysis. Several polymorphisms in the 5' and coding region were identified in PERA/EiJ and I/LnJ Nr1h4 sequences. In addition, I/LnJ animals fed a lithogenic diet exhibit increased hepatic expression of Nr1h4 mRNA compared to I/LnJ.

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:  2 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
06/28/2022
MGI 6.20
The Jackson Laboratory