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Nucleotide substitution resulted in the amino acid substitution of serine with alanine at positions 231 and 234 (p.S231A, p.S234A), abolishing phosphorylation potential at those residues. Serine codon 218 was changed from TCA to AGC as a silent mutation to create a diagnostic SacI restriction site. Cre-mediated recombination removed a loxP site flanked neomycin resistance gene cassette that was inserted downstream of the gene. (J:221029)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
