Threonine codon 125 (ACG) was changed to alanine (GCG) (p.T125A) and serine codon 127 (TCG) to alanine (GCG) (p.S127A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. These mutations of the highly conserved residues in the helix 1 domain prevent phosphorylation of the residues. (J:327336)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
Nucleotide substitutions
--
1
6
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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