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Exons 5 and 6 were removed via cre-mediated recombination, resulting in a frame shift that would lead to early termination of the exon 4 exon 7 fusion. The protein if expressed would not be enzymatically active as the active site is in exon 5. (J:111047)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
