Scn1b^tm1.1Bion
Targeted Allele Detail

Summary

• Symbol: Scn1b^tm1.1Bion
• Name: sodium channel, voltage-gated, type I, beta; targeted mutation 1.1, Bionomics Limited
• MGI ID: MGI:4829975
• Synonyms: beta1^C121W, Scn1b^W
• Gene: Scn1b Location: Chr7:30815949-30826428 bp, - strand Genetic Position: Chr7, 19.3 cM
• Alliance: Scn1b^tm1.1Bion page

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 (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 Scn1b^tm1.1Bion allele

Disease models

Find Mice (IMSR)

• 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: 8 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: 3 reference(s)