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Scn4atm1.1Ljh
Targeted Allele Detail
Nomenclature
Symbol: Scn4atm1.1Ljh
Name: sodium channel, voltage-gated, type IV, alpha; targeted mutation 1.1, Lawrence J Hayward
MGI ID: MGI:4366146
Synonyms: SCN4aM1592V
Gene: Scn4a  Location: Chr11:106318592-106353288 bp, - strand  Genetic Position: Chr11, 68.91 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:153497
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe targeting vector inserts a missense substitution changing a methionine to a valine at amino acid position 1592 (M1592V) in exon 24 and a loxP flanked neo cassette in intron 23. The neo cassette is removed by transient infection with a Cre recombinase expressing plasmid leaving a single loxP site downstream of exon 23. (J:135831, J:153497)
Inheritance:    Recessive
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: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Scn4a Mutation:  45 strains or lines available
References
Original:  J:153497 Hayward L, Creation of the M1592V mutation in Scn4a. MGI Direct Data Submission. 2009;
All:  7 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
04/06/2021
MGI 6.16
The Jackson Laboratory