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Allele : Mmut<em1Cpv> methylmalonyl-Coenzyme A mutase; endonuclease-mediated mutation 1, Charles P Venditti

Primary Identifier  MGI:7431125 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 an arginine to cysteine substitution at amino acid 106 (p.R106C). This corresponds to the human p.R108C pathogenic mutation classified as muto which results in the more common and severe form of methylmalonic acidemia.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Mmut<p.R106C>,
  • Mmut<p.R106C>
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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

3 Publication categories

Trail: Allele