This is a unique genetically modified strain ofmice that models Dravet syndrome, a severe infant-onset epileptic encephalopathy. They are maintained on apure 129S6/SvEvTac genetic background to facilitate genetic studies.
These cell lines are useful for studying the regulation of tissue-specific gene expression, and may also be used to identify epididymal-specific transcription factors involved in expression of specific proteins in the epididymis.
A Bacterial Artificial Chromosome (BAC) containing the mouseSlc5a7 gene was used to make transgenic mice. Mice show elevated choline transporter and acetylcholine levels and increased treadmill endurance.
Mammalian expression plasmids encoding mutant human voltage-gated sodium channel (NaV1.5) cDNA for use in heterologous expression studies. The plasmids encode versions of NaV1.5 with specific mutations identified in patients with congenital long-QT syndrome type 3 (LQT3 mutations).