Exon 26 was replaced with one containing a deletion of residues QKP 1510-1512 (CAGAAGCCC). In addition, an FRT-flanked neomycin resistance cassette in opposite-orientation was inserted 148 bp upstream of exon 26. Flp-mediated recombination removed the selection cassette resulting in an allele with deletion of the QKP amino acids. This deletion is equivalent to the human QKP1507-1509 deletion in patients with Long QT syndrome. (J:266290)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Intragenic deletion
--
1
26
2

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
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