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Scn5atm3(SCN5A*)Rdn
Targeted Allele Detail
Nomenclature
Symbol: Scn5atm3(SCN5A*)Rdn
Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 3, Dan M Roden
MGI ID: MGI:5445892
Synonyms: DN
Gene: Scn5a  Location: Chr9:119312474-119408082 bp, - strand  Genetic Position: Chr9, 71.33 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:189389
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Inserted expressed sequence, RMCE-ready)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsRecombinase-mediated cassette exchange was used to replace exon 2 with a loxP site, the FLAG-tagged full length human SCN5A with a G to A mutation (c.3823G to A), an FRT-flanked hygro cassette and a loxP site. The mutation results in the amino acid substitution of asparagine for aspartic acid at position 1275 (D1275N). (J:189389)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
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:  62 strains or lines available
References
Original:  J:189389 Watanabe H, et al., Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation. 2011 Aug 30;124(9):1001-11
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory