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CRISPR/Cas9 technology generated a CCATGC to GTCGAC change resulting in a proline to valine substitution at amino acid 656 (P656V) and a cysteine to aspartate substitution at position 657 (C657D) in exon 19. These substitutions are predicted to disable the first two steps (nucleophilic addition and methyl transfer) of the three-step process required for catalytic activity and thus result in a catalytically inactive protein. (J:279449)
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
