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A substitution of AGT to GCG in exon 11 results in an alanine for serine substitution at amino acid 302 (S302A), resulting in an unphosphorylated (by cyclin D1/D2-cdk4) isoform. In addition, a neomycin resistance cassette was inserted downstream of exon 11. Translational activity of CELF1 is inhibited. (J:244612)
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
