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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)
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
