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Scn5atm1Clhh
Targeted Allele Detail
Summary
Symbol: Scn5atm1Clhh
Name: sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Christopher LH Huang
MGI ID: MGI:3765977
Synonyms: Scn5adelta
Gene: Scn5a  Location: Chr9:119312474-119408082 bp, - strand  Genetic Position: Chr9, 71.33 cM
Alliance: Scn5atm1Clhh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:127879
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvEv
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutation:    Intragenic deletion
 
Mutation detailsA 9 bp deletion (deleting amino acids lysine, proline and glutamine; deltaKPQ) was introduced into exon 26. A floxed thymidine kinase and neo cassette was also inserted into intron 26 but was removed by cre-mediated recombination using a cre recombinase expressing vector. Modification to the transcript was confirmed by RT-PCR. (J:127879)
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 structure(s)
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:  104 strains or lines available
References
Original:  J:127879 Head CE, et al., Paced electrogram fractionation analysis of arrhythmogenic tendency in DeltaKPQ Scn5a mice. J Cardiovasc Electrophysiol. 2005 Dec;16(12):1329-40
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
04/30/2024
MGI 6.23
The Jackson Laboratory