PolgR292C mice harbor a CRISPR/Cas9-induced R292C (arginine to cysteine) missense variant and a silent F290F variant in exon 4 of the murine polymerase (DNA directed), gamma (Polg) gene. Polg encodes the catalytic subunit of mitochondrial DNA polymerase and is involved in the replication of mitochondrial DNA. The R292C mutation is homologous to human R309C. Heterozygous mice appear phenotypically normal and are fertile. Homozygous mice are born below expected Mendelian rations (9.8% of the expected 25% in het x het crosses). Homozygotes are normal in appearance. Homozygous males and females are fertile, however, females may have low productivity while males show no decrease in productivity.

The use of this mouse model is subject to the terms and conditions of the Limited Use Label License from Caribou Biosciences, Inc.

The use of this mouse strain or other product (the "Licensed Product") is subject to the terms and conditions of the Limited License from The Broad Institute.

CRISPR/Cas9 endonuclease mediated genome editing of polymerase (DNA directed), gamma (Polg) was used to introduce an amino acid substitution at position 292 altering arginine to cysteine (R292C). The mutation is homologous to human R309C. This strain may be useful for studies of Polg-associated mitochondrial disorders.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.