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| Nomenclature |
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Symbol:
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Scn5atm1Pec
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Name:
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sodium channel, voltage-gated, type V, alpha;
targeted mutation 1, Peter Carmeliet
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MGI ID: |
MGI:2388158 |
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Synonyms: |
deltaKPQ-SCN5A, Scn5adelta |
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Gene:
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Scn5a
Location:
Chr9:119483410-119579016 bp, - strand
Genetic Position: Chr9,
71.33 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:71542
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Sequence 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Scn5a Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
