Recurrent DNA copy number variation in the laboratory mouse

Nat Genet. 2007 Nov;39(11):1384-9. doi: 10.1038/ng.2007.19. Epub 2007 Oct 28.


Different species, populations and individuals vary considerably in the copy number of discrete segments of their genomes. The manner and frequency with which these genetic differences arise over generational time is not well understood. Taking advantage of divergence among lineages sharing a recent common ancestry, we have conducted a genome-wide analysis of spontaneous copy number variation (CNV) in the laboratory mouse. We used high-resolution microarrays to identify 38 CNVs among 14 colonies of the C57BL/6 strain spanning approximately 967 generations of inbreeding, and we examined these loci in 12 additional strains. It is clear from our results that many CNVs arise through a highly nonrandom process: 18 of 38 were the product of recurrent mutation, and rates of change varied roughly four orders of magnitude across different loci. Recurrent CNVs are found throughout the genome, affect 43 genes and fluctuate in copy number over mere hundreds of generations, observations that raise questions about their contribution to natural variation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping*
  • Chromosomes, Mammalian / genetics
  • Cluster Analysis
  • Databases, Genetic
  • Gene Dosage / genetics*
  • Genetic Variation*
  • Genome / genetics*
  • Mice / genetics*
  • Mice, Inbred C57BL / classification
  • Mice, Inbred C57BL / genetics*
  • Mutation / genetics
  • Oligonucleotide Array Sequence Analysis
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide

Associated data

  • GEO/GPL5777
  • GEO/GSE8980