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Scn5atm1(SCN5A)Rdn
Targeted Allele Detail
Nomenclature
Symbol: Scn5atm1(SCN5A)Rdn
Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Dan M Roden
MGI ID: MGI:3691483
Synonyms: H
Gene: Scn5a  Location: Chr9:119312474-119408082 bp, - strand  Genetic Position: Chr9, 71.33 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:115269
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Inserted expressed sequence, RMCE-ready)
Mutation:    Insertion
 
Mutation detailsRecombinase-mediated cassette exchange was used to replace exon 2 with a loxP site, the full length human SCN5A, an FRT-flanked hygro cassette and a loxP site. Restriction fragment length polmorphisms were used to confirm that only the human transcripts were expressed in mutant hearts. This knock-in contains the conserved noncoding sequence 28 (CNS28). (J:115269, J:185686)
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: 1 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:115269 Liu K, et al., Recombinase-mediated cassette exchange to rapidly and efficiently generate mice with human cardiac sodium channels. Genesis. 2006 Nov;44(11):556-64
All:  4 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
05/17/2022
MGI 6.19
The Jackson Laboratory