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EN
ENU mutagenesis induces a two base pair deletion in exon 31. The resulting frame shift disrupts all three isoforms with isoform A containning 46 and isoforms B and S containing 43 novel amino acids before premature truncation. The absence of the 330 KDa and 250 KDa isoforms was confirmed by western blot analysis on E14.5 brain extracts.
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
