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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count