Heteroplasmy in mice with deletion of a large coding region of mitochondrial DNA

Mol Biol Evol. 1987 Jan;4(1):46-55. doi: 10.1093/oxfordjournals.molbev.a040421.


Polymorphism of animal mitochondrial DNA (mtDNA) has been shown to involve point mutations and limited length variations affecting essentially noncoding regions. In two wild mice of the European subspecies Mus mus musculus we found a mitochondrial mutant with a very large deletion in a coding region. The deletion is 5 kbp long (31% of the mitochondrial chromosome) and encompasses six tRNA genes and seven protein genes. The two mice were heteroplasmic: they contained a mixture of normal mtDNA and the deletion mutant. Although the latter is functionally defective, it represents 78%-79% of the mtDNA molecules in our preparations from each animal.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Deletion*
  • DNA Restriction Enzymes
  • DNA, Mitochondrial / genetics*
  • Genetic Variation
  • Mice / genetics*
  • Molecular Weight


  • DNA, Mitochondrial
  • DNA Restriction Enzymes