Genome wide association analysis in a mouse advanced intercross line

Nat Commun. 2018 Dec 4;9(1):5162. doi: 10.1038/s41467-018-07642-8.

Abstract

The LG/J x SM/J advanced intercross line of mice (LG x SM AIL) is a multigenerational outbred population. High minor allele frequencies, a simple genetic background, and the fully sequenced LG and SM genomes make it a powerful population for genome-wide association studies. Here we use 1,063 AIL mice to identify 126 significant associations for 50 traits relevant to human health and disease. We also identify thousands of cis- and trans-eQTLs in the hippocampus, striatum, and prefrontal cortex of ~200 mice. We replicate an association between locomotor activity and Csmd1, which we identified in an earlier generation of this AIL, and show that Csmd1 mutant mice recapitulate the locomotor phenotype. Our results demonstrate the utility of the LG x SM AIL as a mapping population, identify numerous novel associations, and shed light on the genetic architecture of mammalian behavior.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Behavior, Animal
  • Chromosome Mapping
  • Crosses, Genetic*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study*
  • Genotype
  • Humans
  • Locomotion / genetics
  • Male
  • Membrane Proteins
  • Mice / genetics*
  • Mice, Inbred Strains
  • Nuclear Receptor Subfamily 4, Group A, Member 2 / genetics
  • Phenotype
  • Quantitative Trait Loci / genetics
  • Tumor Suppressor Proteins / genetics

Substances

  • CSMD1 protein, mouse
  • Membrane Proteins
  • Nr4a2 protein, mouse
  • Nuclear Receptor Subfamily 4, Group A, Member 2
  • Tumor Suppressor Proteins