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A targeting construct was designed to replace exon IV and most of exon III with a neomycin resistance cassette. Mutant cells lacked isoforms 1 and 2, but retained a short transcript for isoform 3. This transcript lacked exons III and IV, indicating that the original translation start signal was absent. The short protein had to be initiated at an ATG codon in exon V or a downstream codon. (J:101201)
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
