C57BL/6J-Szt2^m1Frk/FrkJ

Stock number: 029989
Research areas: Neurobiology Research

Description

This ENU-derived Szt2 (seizure threshold 2) mutation was selected for its low electroconvulsive threshold (ECT).

Detailed description

Mice homozygous for this ENU-derived mutation of the Szt2 (seizure threshold 2) gene are viable, fertile, normal in size and do not display any electroencephalographic, neurosensory, or motor abnormalities. A T to A point mutation in exon 32 of the Szt2 gene affects splicing and results in the inclusion of intron 32 in the transcript. Although mice do not exhibit spontaneous seizures, non-invasive kindling produces an earlier latency to first minimal clonic seizure, as compared to C57BL/6J controls. This mutant mouse strain may be useful in studies of epilepsy susceptibility.

This mutation is also available on a 129S1 genetic background (see Stock No. 010918).

Development

This mutation was generated by ethylnitrosourea (ENU) mutagenesis of C57BL/6J males. Descendants were selected for low electroconvulsive (seizure) threshold (ECT). A T to A point mutation in exon 32 of the Szt2 gene affects splicing and results in the inclusion of intron 32 in the transcript.

Allele

Symbol: Szt2^m1Frk
Name: mutation 1, Wayne N Frankel
MGI accession ID: MGI:4353995
Generation method: Chemically induced (ENU)
Marker symbol: Szt2
Marker name: seizure threshold 2
Marker synonyms: C1orf84; DEE18; EIEE18; KIAA0467; KICS1; MGC:69654; RGD1308616; seaizure threshold 2; SZT2A; SZT2B
Chromosome: 4
Strain of origin: C57BL/6J
Molecular note: A T to A mutation was induced by ENU in the exon 32 splice site donor resulting in inclusion of intron 32 in the mutant transcript. Northern blot analysis indicates about a 4 fold increase in mRNA expression in whole brains from homozygous mice.