Allele #1 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 R222Q. Recombinase mediated cassette exchange was used to insert human SCN5A between loxP sites. Expression of human SCN5A is dependent on native mouse promoters for SCN5A.

Keywords: R222Q Scn5a Rdn RMCE

Record History
Added on April 6, 2022 at 1:41 PM by Skelton, Jennifer
Modified on April 18, 2022 at 11:17 AM by Skelton, Jennifer
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VCMR: Vanderbilt Cryopreserved Mouse Repository Master
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Mouse Information

Common Name RQH-SCN5A-SV129
Date Cryopreserved 2018-04-10
Method of Cryopreservation Sperm
Trial IVF % Fertilization 31.00%

Genetic Alteration

Mutation #1: Targeted Mutagenesis
Allele Name: sodium channel, voltage-gated, type V, alpha; targeted mutation, Dan M Roden
Symbol: Scn5atm(R222Q))Rdn
Zygosity at cryopreservation Heterozygous
PCR Genotyping Protocol Genotyping_Protocol_YI.pdf
SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells. (2019) Heart Rhythm 16: 1676-1685 (Added 6/14/2019)
PMID: 31125670

Background Strain Information

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

Homozygous R222Q pups are viable, but are usually smaller than normal and do not live past 1 month of age. Most die before they are weaned. Many are probably eaten by the mother.