Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1swe, formerly Nhe1) display locomomotor ataxia recognizeable at 11-14 days of age. Younger homozygous mutant mice have a unique seizure phenotype characterized by frequent bursts of 3/sec generalized spike-wave activity and behavioral arrest. They also have rare, generalized, tonic-clonic seizures which usually result in death. This seizure phenotype is similar to common human absence epilepsies. There is also neuronal cell death in the cerebellum and brainstem.
|Allele Name||slow-wave epilepsy|
|Gene Symbol and Name||Slc9a1, solute carrier family 9 (sodium/hydrogen exchanger), member 1|
|Strain of Origin||SJL/J|
|General Note||This mutation causes central nervous system symptoms including locomotor ataxia and an epileptic like seizure phenotype consisting of 3 second absence and clonic-tonic seizures. Neuronal cell death occurs in cerebellum and brainstem. The swe mutation is a null allele of Slc9a1 (J:43429).|
|Molecular Note||This spontaneous A to T transversion at nucleotide 1639 is predicted to change lysine to a stop codon at amino acid 442, which is between the eleventh and twelfth transmembrane protein.|
When using the slow-wave epilepsy mouse strain in a publication, please cite the originating article(s) and include JAX stock #003011 in your Materials and Methods section.