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QTL Variant Detail
QTL variant: Lith9PERA/EiJ
Name: lithogenic gene 9; PERA/EiJ
MGI ID: MGI:2681423
QTL: Lith9  Location: Chr17:84965662-84990439 bp  Genetic Position: Chr17, cM position of peak correlated region/allele: 60.67 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Strain of Specimen:  PERA/EiJ
Allele Type:    QTL
Mutation:    Undefined
Mutation detailsThis allele confers increased gallstone score compared to I/LnJ. This allele confers susceptibility to gallstone formation compared to DBA/2J.
Inheritance:    Other (see notes)
View phenotypes and curated references for all genotypes (concatenated display).
Lith9 exhibits additive inheritance.

Candidate Genes


An initial genome scan was performed with 186 (PERA/EiJ x DBA/2J) F2 animals using 98 SSLP markers at a resolution of 17.1 cM. Parental strain PERA/EiJ is resistant to gallstone formation after 8 weeks on a high fat diet where as parental strain DBA/2J is susceptible. Animals were fed a high fat diet starting at 6-8 weeks of age. After candidate loci were identified an addition set of 93 F2 animals were genotyped at selected regions. This dataset was combined with a previous PERA/EiJ x I/LnJ dataset for additional analysis.

The Chr 17 QTL, Lith9, did not exceed the threshold for suggestive QTL in the PERA/EiJ x DBA/2J cross but acheived a LOD score of 5.8 at 52cM in the combined data analysis.

Abcg5 (54.5 cM)and Abcg8 (54.5 cM) on mouse Chromosome 17have been proposed as candidate genes for Lith9. Expression analysis showed higher levels of Abcg5 and Abcg8 mRNA in PERA/EiJ animals compared to DBA/2J and I/LnJ. As expected Abcg5 and Abcg8 mRNA levels didnot differ between DBA/2J and I/LnJ.

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


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 Abcg8underlie Lith9. Whereas Nr0b2 was a suggested candidate for Lith8

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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