Scn5a^tm1Asun
Targeted Allele Detail

Summary

• Symbol: Scn5a^tm1Asun
• Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Aijun Sun
• MGI ID: MGI:7548761
• Synonyms: DI-S4 KI
• Gene: Scn5a Location: Chr9:119312474-119408082 bp, - strand Genetic Position: Chr9, 71.33 cM
• Alliance: Scn5a^tm1Asun page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342506
• Parent Cell Line: iTL IC1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Scn5a Mutation: 103 strains or lines available

References

• Original: J:342506 Shen C, et al., Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density. J Med Genet. 2017 Nov;54(11):762-770
• All: 1 reference(s)