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EN
Nucleotide substitutions in exon 2 result in the amino acid substitution of five serines with alanines (p.[Ser351Ala;Ser353Ala;Ser355Ala] and p.(Ser358_Ser359delinsAlaAla)). This prevents phosphorylization of the five residues and the produced protein fails to internalize correctly, but signaling is not disrupted. A loxP site flanked neomycin resistance gene cassette inserted into intron 2 was removed by subsequent cre-mediated recombination. (J:163389)
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 |
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References Literature
Title
PMID
Journal
Year
IF
