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Targeted Allele Detail
Symbol: Scn5atm1Pec
Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Peter Carmeliet
MGI ID: MGI:2388158
Synonyms: deltaKPQ-SCN5A, Scn5adelta
Gene: Scn5a  Location: Chr9:119483410-119579016 bp, - strand  Genetic Position: Chr9, 71.33 cM
Germline Transmission:  Earliest citation of germline transmission: J:71542
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted
Mutation:    Intragenic deletion
Mutation detailsSequence encoding lyusine-proline-glutamine (residues 1505-1507) were replaced by a single loxP site via homologous recombination followed by in vitro cre mediated excision. This deletion was designed to emulate long-QT3 (LQT3) syndrome, which results in the prolongation of the electrocardiographic QT interval. Quantitative RT-PCR and Western blot analysis confirmed that both transcript and protein levels produced by the targeted allele were comparable to wild-type expression. (J:71542)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  55 strains or lines available
Original:  J:71542 Nuyens D, et al., Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat Med. 2001 Sep;7(9):1021-7
All:  8 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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