Scn5a^tm2.1Care
Targeted Allele Detail

Summary

• Symbol: Scn5a^tm2.1Care
• Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 2.1, Carol Ann Remme
• MGI ID: MGI:5705587
• Synonyms: deltaSIV, Scn5a-p.S2017STOP
• Gene: Scn5a Location: Chr9:119312474-119408082 bp, - strand Genetic Position: Chr9, 71.33 cM
• Alliance: Scn5a^tm2.1Care page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:224433
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 28 was replaced with a modified exon in which nucleotide substitution results in the amino acid substitution of a stop codon for serine at position 2017 (S2017X). This mutation truncates the last three amino acids that constitute a PDZ domain. Cre-mediated recombination removed the floxed neomycin selection cassette inserted upstream of the modified exon. Western blot analysis showed a ~25% reduction of protein levels in cardiac ventricular tissue from homozygous mutant mice relative to wild-type controls. mRNA quantification showed no significant changes in ventricular tissue, suggesting that reduced protein expression is due to changes in posttranslational regulation. Immunostaining of cardiac ventricular sections and isolated cardiomyocytes revealed that protein expression is specifically reduced at the cardiomyocyte lateral membrane but remains normal within the intercalated disk region. (J:224433)

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 Scn5a Mutation: 105 strains or lines available

References

• Original: J:224433 Shy D, et al., PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function. Circulation. 2014 Jul 8;130(2):147-60
• All: 2 reference(s)