SJL/J-Slc9a1^swe/J

Stock number: 003011
Product name: slow-wave epilepsy
Research areas: Cell Biology Research, Neurobiology Research

Description

These mice carry a spontaneous mutation at the Slc9a1 locus characterized by locomomotor ataxia, similar to common human absence epilepsies.

Detailed description

Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1^swe, 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

Symbol: Slc9a1^swe
Name: slow-wave epilepsy
MGI accession ID: MGI:1857350
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Slc9a1
Marker name: solute carrier family 9 (sodium/hydrogen exchanger), member 1
Chromosome: 4
Strain of origin: SJL/J
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.
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).