Mmut^em2Cpv
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mmut^em2Cpv
• Name: methylmalonyl-Coenzyme A mutase; endonuclease-mediated mutation 1, Charles P Venditti
• MGI ID: MGI:7431126
• Synonyms: Mmut^p.G715V
• Gene: Mmut Location: Chr17:41245576-41272879 bp, + strand Genetic Position: Chr17, 19.55 cM, cytoband C-D
• Alliance: Mmut^em2Cpv page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mmut Mutation: 32 strains or lines available

References

• Original: J:332892 Schneller JL, et al., In vivo genome editing at the albumin locus to treat methylmalonic acidemia. Mol Ther Methods Clin Dev. 2021 Dec 10;23:619-632
• All: 2 reference(s)