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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. (J:332892)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
