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Scn1btm1.1Bion
Targeted Allele Detail
Nomenclature
Symbol: Scn1btm1.1Bion
Name: sodium channel, voltage-gated, type I, beta; targeted mutation 1.1, Bionomics Limited
MGI ID: MGI:4829975
Synonyms: beta1C121W
Gene: Scn1b  Location: Chr7:31116524-31127026 bp, - strand  Genetic Position: Chr7, 19.3 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:163771
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 3 was replaced with one in which a C to G transversion (C387G) results in the amino acid substitution of tryptophan for cysteine at position 121 (C121W). A loxP was inserted upstream of the modified exon 3. A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. The modified exon 3 remains floxed. (J:163771)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Scn1b Mutation:  0 strains or lines available
References
Original:  J:163771 Wimmer VC, et al., Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. J Clin Invest. 2010 Aug 2;120(8):2661-71
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory