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Two point mutations (A>G and T>G) were introduced in exon 8. A loxP site flanked neomycin resistance gene cassette was inserted into intron 7. The neo cassette was removed through subsequent cre-mediated recombination. The two mutations change a threonine and serine codon to alanine (p.Thr1123Ala and p.Ser1126Ala). This prevents phosphorylization of those two residues in the encoded protein. (J:200071)
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
