Scn5a^tm1Pec
Targeted Allele Detail

Summary

• Symbol: Scn5a^tm1Pec
• Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Peter Carmeliet
• MGI ID: MGI:2388158
• Synonyms: deltaKPQ-SCN5A, Scn5a^delta
• Gene: Scn5a Location: Chr9:119312474-119408082 bp, - strand Genetic Position: Chr9, 71.33 cM
• Alliance: Scn5a^tm1Pec page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:71542
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted
• Mutation: Intragenic deletion
• Mutation details: Sequence encoding lyusine-proline-glutamine (residues 1505-1507) were replaced by a single loxP site via homologous recombination followed by in vitro cre mediated excision. This deletion was designed to emulate long-QT3 (LQT3) syndrome, which results in the prolongation of the electrocardiographic QT interval. Quantitative RT-PCR and Western blot analysis confirmed that both transcript and protein levels produced by the targeted allele were comparable to wild-type expression. (J:71542)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:71542 Nuyens D, et al., Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat Med. 2001 Sep;7(9):1021-7
• All: 10 reference(s)