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 language | English |
|---|---|
| Pages (from-to) | 241-247 |
| Number of pages | 7 |
| Journal | Methods |
| Volume | 46 |
| Issue number | 4 |
| DOIs | |
| State | Published - Dec 1 2008 |
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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 journal › Article
}
TY - JOUR
T1 - Mouse models of oxidative phosphorylation dysfunction and disease
AU - Vempati, Uma D.
AU - Torraco, Alessandra
AU - Moraes, Carlos T
PY - 2008/12/1
Y1 - 2008/12/1
N2 - 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.
AB - 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.
KW - Conditional knockout mouse
KW - Knockin mouse
KW - Knockout mouse
KW - Mitochondria
KW - Mitochondrial disease
UR - http://www.scopus.com/inward/record.url?scp=56249146348&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=56249146348&partnerID=8YFLogxK
U2 - 10.1016/j.ymeth.2008.09.008
DO - 10.1016/j.ymeth.2008.09.008
M3 - Article
C2 - 18848991
AN - SCOPUS:56249146348
VL - 46
SP - 241
EP - 247
JO - Methods in Enzymology
JF - Methods in Enzymology
SN - 0076-6879
IS - 4
ER -