Human cDNA for SCN5A replaces exon 2 of mouse SCN5A.  Insertion at this location disrupts expression of mouse ortholog.  This mouse is heterozygous for SCN5A mutation D1275N.  Recombinase mediated cassette exchange was used to insert human SCN5A cDNA between two loxP sites.  Expression of human SCN5A is dependent on native mouse promoters for SCN5A.  The D1275N allele has a single flag tag.  

Keywords: Scn5a Rdn D1275N RMCE

Record History
Added on April 6, 2022 at 1:21 PM by Skelton, Jennifer
Modified on April 6, 2022 at 1:31 PM by Skelton, Jennifer
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VCMR: Vanderbilt Cryopreserved Mouse Repository Master
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Mouse Information

Common Name DNH-SCN5A-Sv129
VCMR ID YP
Date Cryopreserved 2018-05-21
Method of Cryopreservation Sperm
Trial IVF % Fertilization 21.00%

Genetic Alteration

Mutation #1: Targeted Mutagenesis
Allele Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 3, Dan M Roden
Symbol: Scn5atm3SCN5A*)Rdn
MGI: 5445892
Zygosity at cryopreservation Heterozygous
PCR Genotyping Protocol Genotyping_Protocol_YP.pdf
Citations
Publication
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. (2011) Circulation 124: 1001-11 (Added 12/5/2013)
PMID: 21824921

Background Strain Information

Strain Type Congenic Strain
Chimera/Founder Genetic Background 129S6/SvEvTac
Cryopreservation Strain Background (VCMR) 129S6/SvEvTac
Viability and Fertility Data

Homozygous pups are viable.  Normal litter sizes for Sv129 mice.  Mice are fertile through 6 months of age.