Lith7 QTL Detail

Summary

• Symbol
  Lith7
• Name
  lithogenic gene 7

• Feature Type
  QTL
• IDs
  MGI:2653452
  NCBI Gene: 493072
• Candidate Genes
  1 Gene

Location &
Maps

• Sequence Map
  Chr10:99309418-99309657 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 10, 51.15 cM (cM position of peak correlated region/marker)
• QTL Archive
  Wittenburg2 download
• Mapping Data
  2 experiments

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 1 allele in 1 genetic background
  2 phenotype references
  

• All Mutations and Alleles
  2
• QTL
  2
• Find Mice (IMSR)
  0 strains or lines available

Sequences &
Gene Models

• NCBI Gene
  493072

References

• Summaries
  All 4

  Phenotypes 2
• Earliest
  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
• Latest
  J:129298 Kovacs P, et al., Variation of the gene encoding the nuclear bile salt receptor FXR and gallstone susceptibility in mice and humans. J Hepatol. 2008 Jan;48(1):116-24

Candidate Genes for Lith7:

Gene	Genome Location (GRCm39)	Reference	QTL Note
Nr1h4	Chr10:89290096-89369447 (-)	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.