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Allele : Mmut<em2Cpv> methylmalonyl-Coenzyme A mutase; endonuclease-mediated mutation 1, Charles P Venditti

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.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Mmut<p.G715V>,
  • Mmut<p.G715V>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele