Mutation discovery in mice by whole exome sequencing

Genome Biol. 2011 Sep 14;12(9):R86. doi: 10.1186/gb-2011-12-9-r86.


We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background. We found strong candidate mutations for the majority of mutant exomes sequenced, including new models of orofacial clefting, urogenital dysmorphology, kyphosis and autoimmune hepatitis.

Publication types

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

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Mammalian / genetics
  • Collagen Type II / genetics
  • DNA Mutational Analysis / methods*
  • Exome*
  • Exons
  • Gene Frequency
  • Genomics / methods*
  • Genotype
  • INDEL Mutation
  • Indicators and Reagents / standards
  • MAP Kinase Kinase Kinases / genetics
  • Mice
  • Mice, Inbred Strains
  • Mutation*
  • Phenotype


  • Col2a1 protein, mouse
  • Collagen Type II
  • Indicators and Reagents
  • MAP Kinase Kinase Kinases
  • mitogen-activated protein kinase kinase kinase 11