Recombinase-mediated cassette exchange was used to replace exon 2 with a loxP site, the full length human SCN5A, an FRT-flanked hygro cassette and a loxP site. Restriction fragment length polmorphisms were used to confirm that only the human transcripts were expressed in mutant hearts. This knock-in contains the conserved noncoding sequence 28 (CNS28). (J:115269, J:185686)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion
--
1
26
5

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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