Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Scn5atm2.1(SCN5A)Rdn
Name:	sodium channel, voltage-gated, type V, alpha; targeted mutation 2.1, Dan M Roden
MGI ID:	MGI:5430150
Synonyms:	CNS28-
Gene:	Scn5a  Location: Chr9:119312474-119408082 bp, - strand  Genetic Position: Chr9, 71.33 cM
Alliance:	Scn5atm2.1(SCN5A)Rdn page

Germline Transmission:	Earliest citation of germline transmission: J:185686
Parent Cell Line:	TL1/TL-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Inserted expressed sequence, RMCE-ready) Mutations:    Insertion, Intragenic deletion   Mutation details: Recombinase mdiated cassette exchange (RMCE) replaced exon 2 with a loxP site, the human cDNA, an FRT-flanked hygro cassette and a loxP site. Flp-mediated recombination removed the hygro cassette. This knock-in lacks the conserved noncoding sequence 28 (CNS28) region contained in Scn5atm1Rdn. Western blot analysis confirmed increased protein expression in the heart compared to in Scn5atm1Rdn homozygotes. (J:185686)

View phenotypes and curated references for all genotypes (concatenated display).

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:	104 strains or lines available

Original:	J:185686 Atack TC, et al., Informatic and functional approaches to identifying a regulatory region for the cardiac sodium channel. Circ Res. 2011 Jun 24;109(1):38-46
All:	1 reference(s)