Mouse models of oxidative phosphorylation dysfunction and disease.
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.
Department of Neurology, University of Miami, USA.
Uma D
UD
Vempati
Alessandra
A
Torraco
Carlos T
CT
Moraes
D033741:Adenine Nucleotide Translocator 1 / Q000235:genetics; D019883:Alkyl and Aryl Transferases / Q000235:genetics; D000818:Animals; D051033:Apoptosis Inducing Factor / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D045304:Cytochromes c / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics; D004195:Disease Models, Animal; D042967:Electron Transport Complex I / Q000235:genetics; D042963:Electron Transport Complex II / Q000235:genetics; D014450:Electron Transport Complex III / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics; D007506:Iron-Sulfur Proteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D028361:Mitochondrial Diseases / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D023421:Models, Animal; D010085:Oxidative Phosphorylation; D012264:Ribonucleotide Reductases / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics; D013937:Thymidine Kinase / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000099156:Superoxide Dismutase 2
D033741:Adenine Nucleotide Translocator 1; D019883:Alkyl and Aryl Transferases; D051033:Apoptosis Inducing Factor; D018797:Cell Cycle Proteins; D045304:Cytochromes c; D004265:DNA Helicases; D004272:DNA, Mitochondrial; D004268:DNA-Binding Proteins; D042967:Electron Transport Complex I; D042963:Electron Transport Complex II; D014450:Electron Transport Complex III; D003576:Electron Transport Complex IV; D006609:High Mobility Group Proteins; D007506:Iron-Sulfur Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D012264:Ribonucleotide Reductases; D013482:Superoxide Dismutase; D013937:Thymidine Kinase; D014157:Transcription Factors; D000099156:Superoxide Dismutase 2; C522573:MTERF3 protein, mouse; C534449:Ndufs4 protein, mouse; C494830:AIFM1 protein, mouse; C037989:Rieske iron-sulfur protein; C092928:Surf-1 protein; C081930:Tfam protein, mouse; C486561:Rrm2b protein, mouse; C512252:COX10 protein, mouse; C105339:thymidine kinase 2; C513299:Twnk protein, mouse