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Exons 14 and 15, which together encode the transmembrane IIS5 segment and the pore in repeat II, were flanked by loxP sites and subsequently excised in vitro cre-mediated recombination prior to germline transmission. Though RT-PCR revealed aberrant transcript in which exon 13 had spliced to a point within intron 16, no protein was detected in the hearts of homozygous mutant embryos by Western blot analysis. (J:66242)
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
