Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Scn1btm1.1Bion
Name:	sodium channel, voltage-gated, type I, beta; targeted mutation 1.1, Bionomics Limited
MGI ID:	MGI:4829975
Synonyms:	beta1C121W, Scn1bW
Gene:	Scn1b  Location: Chr7:30815949-30826428 bp, - strand  Genetic Position: Chr7, 19.3 cM
Alliance:	Scn1btm1.1Bion page

Germline Transmission:	Earliest citation of germline transmission: J:163771
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Single point mutation   Mutation details: Exon 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), mimicking a mutation found in some genetic epilepsy with febrile seizures plus (GEFS+) patients. 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)

Generation of the Scn1btm1.1Bion allele

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scn1b Mutation:	6 strains or lines available

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:	3 reference(s)