Scn5a^tm1Asun

A G to A change at position 674 (c.674G>A) resulting in an arginine to glutamine substitution at amino acid 225 (p.R225Q) was introduced in exon 6 and a loxP-flanked neomycin cassette was inserted downstream of exon 6. This is a novel non-synonymous variant associated with idiopathic dilated cardiomyopathy in human located in the S4 segment domain I (DI-S4). (J:342506)