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Lith5AKR/J
QTL Variant Detail
Summary
QTL variant: Lith5AKR/J
Name: lithogenic gene 5; AKR/J
MGI ID: MGI:2176827
QTL: Lith5  Location: Chr9:83089077-83089175 bp  Genetic Position: Chr9, cM position of peak correlated region/allele: 45.34 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Variant
origin
Strain of Specimen:  AKR/J
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:72264

224 (SWR/J x AKR/J)F1 x AKR/J backcross animals were screened for 92 microsatellite markers at an average spacing of 20 cM to detect QTLS associated with gallstone formation. Parental strain SWR/J is susceptible to gallstone formation when fed a lithogenic diet whereas AKR/J is resistant. A significant gallstone QTL, Lith5, was identified on mouse Chromosome 9 in linkage to D9Mit307 at approximately 43 cM. SWR/J-derived alleles confer increased gallstone score in a dominant or partially dominant manner at Lith5. Two candidate genes mapping to the Lith5 locus are Scap (Sreb cleavage-activating protein) and Lipc (hepatic lipase). Sequence analysis of Scap did not reveal differences between SWR/J and AKR/J strains. Lith5 appears to interact with loci at D6Mit14 and D15Mit26 to affect gallstone score. Suggestive loci for gallstone formation were also detected on mouse Chromosomes 1, 2, 6, and 8. A suggestive interacting marker pair, D5Mit100 and D11Mit74, was detected in linkage to gallbladder mucin gel accumulation. All suggestive loci await confirmation and futher investigation.

References
Original:  J:72264 Wittenburg H, et al., Interacting QTLs for cholesterol gallstones and gallbladder mucin in AKR and SWR strains of mice. Physiol Genomics. 2002 Feb 11;8(1):67-77
All:  1 reference(s)

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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
10/29/2024
MGI 6.24
The Jackson Laboratory