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Data set / project: Bautz1   (2013)

Project Identification of a novel polymorphism in X-linked Nsdhl gene associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice

Bautz1     MPD:280     2013     QTLA: Bautz_2013

AfilliationChurchill Group QTL Archive
Investigators D J Bautz
Karl W Broman     University of Wisconsin   Madison, WI
Contact Karl W Broman
Other participants Threadgill DW
  Loci controlling plasma lipid concentrations were identified by performing a quantitative trait locus analysis on genotypes from 233 mice from a F2 cross between KK/HlJ and I/LnJ, two strains known to differ in their high-density lipoprotein (HDL) cholesterol levels. When fed a standard diet, HDL cholesterol concentration was affected by two significant loci, the Apoa2 locus on Chromosome (Chr) 1 and a novel locus on Chr X, along with one suggestive locus on Chr 6. Non-HDL concentration also was affected by loci on Chr 1 and X along with a suggestive locus on Chr 3. Additional loci that may be sex-specific were identified for HDL cholesterol on Chr 2, 3, and 4 and for non-HDL cholesterol on Chr 5, 7, and 14. Further investigation into the potential causative gene on Chr X for reduced HDL cholesterol levels revealed a novel, I/LnJ-specific nonsynonymous polymorphism in Nsdhl, which codes for sterol-4-alpha-carboxylate 3-dehydrogenase in the cholesterol synthesis pathway. Although many lipid quantitative trait locus have been reported previously, these data suggest there are additional genes left to be identified that control lipid levels and that can provide new pharmaceutical targets.
 Available download files:
Excel file with descriptions and data: • Data_Description_Bautz_2013.xlsx
CSV files • Bautz_2013.csv
QC plots, figures, etc.: • QCReport_Bautz_2013.pdf
Progenitors: I/LnJ   KK/HlJ         Cross type: F2 reciprocal intercross
Population size: 111     130    

Studied phenotypes
Bleed_Wt   weight at time of bleeding [g] age 12-14wks  
Chol   total cholesterol level, log-transformed [log(mg/dL)] age 12-14wks  
HDL   high-density lipoprotein cholesterol, log-transformed [log(mg/dL)] age 12-14wks  
nonHDL   total chol minus HDL, log-transformed [log(mg/dL)] age 12-14wks  
Tri   triglycerides in plasma, log-transformed [log(mg/dL)] age 12-14wks  
Ontology term mappings

Phenotyping methodologies utilized:   • body weight     • lipid profile    

Notes and
National Institutes of Health grants CA079869 and GM074244 and fellowship CA145048
Changelog No updates or corrections have been posted since initial release in Oct 2013
Relocated to MPD from in Feb 2015.

Bautz DJ, Broman KW, Threadgill DW. Identification of a Novel Polymorphism in X-Linked Sterol-4-Alpha-Carboxylate 3-Dehydrogenase (Nsdhl) Associated with Reduced High-Density Lipoprotein Cholesterol Levels in I/LnJ Mice. G3 (Bethesda). 2013 Oct 3;3(10):1819-1825. doi: 10.1534/g3.113.007567.     PubMed 23979938     MGI


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