Scn4a^tm1.1Cann
Targeted Allele Detail

Summary

• Symbol: Scn4a^tm1.1Cann
• Name: sodium channel, voltage-gated, type IV, alpha; targeted mutation 1.1, Stephen C Cannon
• MGI ID: MGI:5301528
• Synonyms: R669H^m, SCN4A^R669H
• Gene: Scn4a Location: Chr11:106209418-106244114 bp, - strand Genetic Position: Chr11, 68.91 cM
• Alliance: Scn4a^tm1.1Cann page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:178228
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Nucleotide substitutions Mutation details: Exon 13 was replaced with an FRT-flanked neo cassette and a floxed exon 13 in which nucleotide substitutions (CGT to CAC) resulted in the amino acid substitution of histidine for arginine at position 669 (R669H). Two additional silent polymorphisms were inserted at codon 661 (GTG to GTA) and 662 (CTC to CTG). Flp-mediated recombination removed the neo cassette. (J:178228)

Construction of the Scn4a^tm1.1Cann knockin allele

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Scn4a Mutation: 70 strains or lines available

References

• Original: J:178228 Wu F, et al., A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis. J Clin Invest. 2011 Oct 3;121(10):4082-94
• All: 3 reference(s)