Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1, is a subunit of the ubiquinol-cytochrome c reductase complex (Complex III or Cytochrome bc1 complex), of the electron transport chain, which transfers electrons from ubiquinol to cytochrome c.
These mice carry a targeted mutation of the Uqcrfs1 gene, consisting of a proline-to-serine point mutation(P224S) in exon 2 that corresponds to the mutation found in isp-1(qm150) mutant Caenorhabditis elegans worms. Mice that are homozygous for the targeted mutation have an embryonic lethal phenotype. Heterozygotes are viable and fertile. Heterozygous males have a lifespan that is 10% less than wildtype controls. Female heterozygotes have an unaffected median lifespan, but those that survive to mid-life exhibit a survival advantage relative to wild type controls. Male heterozygotes, 3 months of age, exhibit decreased metabolic rate, while 3 month old heterozygous females and 2 year old heterozygotes do not. Two-year old heterozygous males exhibit impaired motor learning relative to wild type controls. A lower amount of gene product (protein) is detected by Western blot analysis of mitochondria isolated from liver of heterozygotes; the protein level is estimated to be approximately 67% of the wildtype level. Complex III enzymatic activity is reduced in liver by 20% in male heterozygotes and 15% in female heterozygotes.

These Risp+/P224S mutant mice exhibit mildly impaired mitochondrial function, reduced metabolic rate (heterozygous males), and may have applications in studies of longevity, aging and mitochondrial function.

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C57BL/6-Uqcrfs1<tm1.1Hek>/J Frozen Embryo