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A floxed neo was inserted upstream of exon 2, and an additional loxP site inserted upstream of the promotor. Western blot shows reduced levels of the 82 and 84 kDa isoforms in cardiac and skeletal muscles and smaller isoforms in brains relative to wild type animals, indicating possible alterations in alternative splicing patterns, and that this allele is putatively hypomorphic. (J:91191)
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
