Mouse models of oxidative phosphorylation dysfunction and disease |
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Authors: | Vempati Uma D Torraco Alessandra Moraes Carlos T |
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Affiliation: | aDepartment of Neurology, University of Miami, USA;bDepartment of Cell Biology & Anatomy, University of Miami, USA |
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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. |
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Keywords: | Mitochondria Mitochondrial disease Knockout mouse Knockin mouse Conditional knockout mouse |
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