Serine codon 55 (AGT) in exon 5 was changed to aspartic acid (GAT) (p.S55D) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation changes the phosphorylatable residue in the encoded peptide to a phosphomimetic. (J:342731)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
Nucleotide substitutions
--
1
4
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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