P286R : Mutation rate in mouse cells
Mouse embryonic fibroblasts derived from heterozygous PoleP286R/+ embryos have an elevated mutation rate. The PoleP286R variant engineered in a murine melanoma cell line also accelerates mutation accumulation.
References
- Ma, X. et al. Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity. Nat. Genet. 54, 996-1012 (2022). https://pubmed.ncbi.nlm.nih.gov/35817971/
- Li, H.D. et al. Polymerase-mediated ultramutagenesis in mice produces diverse cancers with high mutational load. J Clin Invest 128, 4179-4191 (2018). https://pubmed.ncbi.nlm.nih.gov/30124468/