Lith9 QTL Detail

Summary

• Symbol
  Lith9
• Name
  lithogenic gene 9

• Feature Type
  QTL
• IDs
  MGI:2653454
  NCBI Gene: 100035535
• Candidate Genes
  1 Gene

Location &
Maps

• Sequence Map
  Chr17:84965662-84990439 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 17, 60.67 cM (cM position of peak correlated region/marker)
• QTL Archive
  Wittenburg3 download
• Mapping Data
  2 experiments

Mutations,
Alleles, and
Phenotypes

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

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

Sequences &
Gene Models

• NCBI Gene
  100035535

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:97424 Wittenburg H, et al., Association of a Lithogenic Abcg5/Abcg8 allele on Chromosome 17 (Lith9) with Cholesterol Gallstone Formation in PERA/EiJ mice. Mamm Genome. 2005;16(7):495-504

Candidate Genes for Lith9:

Gene	Genome Location (GRCm39)	Reference	QTL Note
Abcg5	Chr17:84965662-84990439 (-)	J:97424	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.