Primary Identifier | MGI:7431126 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Mmut |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |