These mice carry a spontaneous mutation at the Slc9a1 locus characterized by locomomotor ataxia, similar to common human absence epilepsies.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Slc9a1 | solute carrier family 9 (sodium/hydrogen exchanger), member 1 |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | swe |
Gene Symbol and Name | Slc9a1, solute carrier family 9 (sodium/hydrogen exchanger), member 1 |
Gene Synonym(s) | |
Strain of Origin | SJL/J |
Chromosome | 4 |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wild-type for Slc9a1<swe> |
Frozen Mouse Embryo | SJL/J-Slc9a1<swe>/J | $2595.00 |
Frozen Mouse Embryo | SJL/J-Slc9a1<swe>/J | $2595.00 |
Frozen Mouse Embryo | SJL/J-Slc9a1<swe>/J | $3373.50 |
Frozen Mouse Embryo | SJL/J-Slc9a1<swe>/J | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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