Generation of Xenomitochondrial Embryonic Stem Cells for the Production of Live Xenomitochondrial Mice

  • Ian A. Trounce
  • Jessica Ackerley
  • Matthew McKenzieEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1351)


The unique features of the mitochondrial genome, such as its high copy number and lack of defined mechanisms of recombination, have hampered efforts to manipulate its sequence to create specific mutations in mouse mtDNA. As such, the generation of in vivo mouse models of mtDNA disease has proved technically challenging. This chapter describes a unique approach to create mitochondrial oxidative phosphorylation (OXPHOS) defects in mouse ES cells by transferring mtDNA from different murid species into Mus musculus domesticus ES cells using cytoplasmic hybrid (“cybrid”) fusion. The resulting “xenocybrid” ES cells carry OXPHOS defects of varying severity, and can be utilized to generate live mouse models of mtDNA disease.

Key words

Mouse Xenocybrid Fusion Fibroblasts Embryonic stem cells 


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Ian A. Trounce
    • 1
  • Jessica Ackerley
    • 2
  • Matthew McKenzie
    • 3
    Email author
  1. 1.Centre for Eye Research Australia, Royal Victorian Eye and Ear HospitalUniversity of MelbourneEast MelbourneAustralia
  2. 2.Centre for Genetic DiseasesHudson Institute of Medical ResearchClaytonAustralia
  3. 3.Centre for Genetic DiseasesHudson Institute of Medical ResearchClayton, MelbourneAustralia

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