OrganismMus musculus
Aging PhenotypeShortened life-span
Allele TypeN/A
Strain129R1 x C57BL/6
DescriptionHomozygous knock-in of a proof-reading deficient PolgA shortens-life span (Trifunovic et al., 2004). Median life-span of PolgA mutant animals is 48 months.
Gene FunctionNucleus-encoded catalytic subunit of mitochondrial DNA polymerase
Other PhenotypesPolgA mutant animals develop a 3- to 5-fold increase in levels of point mutations in mitochondrial DNA and show premature aging phenotypes consisting of: weight loss, reduced subcutaneous fat deposition, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and heart enlargement (Trifunovic et al., 2004).
Primary ReferenceTrifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly, Y. M., Gidlof, S., Oldfors, A., Wibom, R., et al. (2004). Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417- [Abstract]
Other References
Relevant LinksLocusLink:
KeywordsmtDNA polymerase, mitochondria, respiratory chain dysfunction, mutation accumulation, ROS, progeria, premature aging