Allele/Variant

Mmutem1Cpv

Species
Mus musculus
Symbol
Mmutem1Cpv
Category
allele
Allele of gene
Mmut
Transgenic Constructs
None
Synonyms
  • Mmutp.R106C
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
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