Mmut^em2Cpv

CRISPR/Cas9 technology generated a glycine to valine substitution at amino acid 715 (p.G715V). A silent C to A mutation was introduced in the PAM to prevent Cas9 cleavage of the donor construct. This corresponds to the human p.G717V pathogenic mutation classified as mut- which exhibits partial activity and results in the less severe form of methylmalonic acidemia. (J:332892)