Mouse models of oxidative phosphorylation dysfunction and disease

Uma D. Vempati, Alessandra Torraco, Carlos T Moraes

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Oxidative phosphorylation (OXPHOS) deficiency results in a number of human diseases, affecting at least one in 5000 of the general population. Altering the function of genes by mutations are central to our understanding their function. Prior to the development of gene targeting, this approach was limited to rare spontaneous mutations that resulted in a phenotype. Since its discovery, targeted mutagenesis of the mouse germline has proved to be a powerful approach to understand the in vivo function of genes. Gene targeting has yielded remarkable understanding of the role of several gene products in the OXPHOS system. We provide a "tool box" of mouse models with OXPHOS defects that could be used to answer diverse scientific questions.

Original languageEnglish
Pages (from-to)241-247
Number of pages7
JournalMethods
Volume46
Issue number4
DOIs
StatePublished - Dec 1 2008

Fingerprint

Oxidative Phosphorylation
Gene Targeting
Genes
Mitochondrial Diseases
Mutation
Mutagenesis
Phenotype
Population
Defects

Keywords

  • Conditional knockout mouse
  • Knockin mouse
  • Knockout mouse
  • Mitochondria
  • Mitochondrial disease

ASJC Scopus subject areas

  • Molecular Biology
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Mouse models of oxidative phosphorylation dysfunction and disease. / Vempati, Uma D.; Torraco, Alessandra; Moraes, Carlos T.

In: Methods, Vol. 46, No. 4, 01.12.2008, p. 241-247.

Research output: Contribution to journalArticle

Vempati, Uma D. ; Torraco, Alessandra ; Moraes, Carlos T. / Mouse models of oxidative phosphorylation dysfunction and disease. In: Methods. 2008 ; Vol. 46, No. 4. pp. 241-247.
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