Glutamic acid codon 332 (GAA) in exon 7 was changed to glutamine (CAA) (p.E332Q) using crRNA, tracrRNA and an ssODN template with CRISPR/Cas9 technology. This mutation, in the N-terminal RecA module of the RNA helicase domain, inactivates the protein's ATPase and RNA helicase activities. (J:328765)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA/2)F1
Endonuclease-mediated
Single point
Dominant
1
--
1

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

References Literature

Title
PMID
Journal
Year
IF
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