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EN
Tyrosine codon 573 (TAC) in exon 10 was changed to aspartic acid (GAC) (p.Y573D) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 9. The neo cassette was removed through subsequent Cre-mediate recombination. The mutation changes the residue in the cytoplasmic tail of the encoded peptide from phosphorylatable to a phosphomimetic. (J:305628)
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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References Literature
Title
PMID
Journal
Year
IF
