Overview

Also Known As:slow-wave epilepsy

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

Genetic overview

Genetic Background	Generation

Slc9a1^swe

Allele Type	Gene Symbol	Gene Name
Spontaneous	Slc9a1	solute carrier family 9 (sodium/hydrogen exchanger), member 1

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Research Applications

Neurobiology Research
Cell Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

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.

Control Suggestions

Heterozygote from the colony
Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Cox GA; Lutz CM; Yang CL; Biemesderfer D; Bronson RT; Fu A; Aronson PS ; Noebels JL ; Frankel WN. 1997. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 91(1):139-48PubMed: 9335342 MGI: J:43429

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Genetics

Slc9a1^swe

Allele Symbol: Slc9a1^swe

Allele Name	slow-wave epilepsy
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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Slc9a1^swe related

Neurobiology Research
- Channel and Transporter Defects
  - sodium/hydrogen
- Ataxia (Movement) Defects
- Epilepsy
- Neurodegeneration
Cell Biology Research
- Channel and Transporter Defects
  - sodium/hydrogen

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Slc9a1^swe/Slc9a1^swe
B6.SJL-Slc9a1

behavior/neurological phenotype

ataxia
- at 11-14 days of age, mutants have an ataxic gait; ataxia is more prominent in the hindlimbs and is characterized by a slow, wide-based gait and coarse truncal instability while moving

seizures
- brief episodes of 3/second waves and spike wave patterns are observed in 5 nd 6 week old animals, but do not progress with age

tonic-clonic seizures
- mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days of age; seizures are usually of less than one minute and are preceded by several seconds of wild running

growth/size/body region phenotype

decreased body size
- mutants are slightly smaller than wild-type littermates at weaning

mortality/aging

postnatal lethality, incomplete penetrance
- more than half of the homozygotes die before weaning

premature death
- most animals surviving past weaning die by 35-40 days of age probably from a lethal convulsive episode; B6.SJL congenics rarely live past 40 days of age

nervous system phenotype

abnormal axon morphology
- Purkinje cell axons are hypertrophic

abnormal cerebellar molecular layer
- occasional dystrophic axons are seen in and around the cerebellar molecular layer

abnormal vestibular ganglion morphology
- progressive degeneration of vestibular nuclei is also observed but fewer neurons are affected at each timepoint examined

axon degeneration
- Purkinje cell axon degeneration in the cerebella at 4 months of age

abnormal cerebellum deep nucleus morphology
- progressive neuronal degeneration is observed in deep cerebellar nuclei at 3 weeks of age; by 7 weeks and more so at 4 months, most DCN large neurons have disappeared; surviving neurons are surrounded by excessive glial cells

cochlear ganglion degeneration
- progressive degeneration of cochlear nuclei is also observed but fewer neurons are affected at each timepoint examined

abnormal cerebellum dentate nucleus morphology
- by 7 weeks and more so at 4 months, most DCN large neurons have disappeared; surviving neurons are surrounded by excessive glial cells

tonic-clonic seizures
- mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days of age; seizures are usually of less than one minute and are preceded by several seconds of wild running

abnormal synaptic bouton morphology
- swollen and displaced Purkinje cell axon collateral boutons are seen as early as P14

seizures
- brief episodes of 3/second waves and spike wave patterns are observed in 5 nd 6 week old animals, but do not progress with age

neuron degeneration
- progressive neuronal degeneration is observed in deep cerebellar nuclei at 3 weeks of age; by 7 weeks and more so at 4 months, most DCN large neurons have disappeared; surviving neurons are surrounded by excessive glial cells

Purkinje cell degeneration
- Normal - however, no loss of Purkinje cells is detected in the cerebellum
- Purkinje cell axon degeneration in the cerebella at 4 months of age

abnormal Purkinje cell morphology
- Purkinje cell axons are hypertrophic

Genotype: Slc9a1^swe/Slc9a1^swe
involves: C57BL/6J * SJL/J

behavior/neurological phenotype

behavioral arrest
- associated with absence seizures

absence seizures
- electrocorticographic recording from 4-5 week old (SJL x B6) F2 mutants display frequent episodes of generalized bilaterally symmetric spike-wave activity with a rhythmic periodicity ranging from 3 to 4.5 seconds; spikes are always preceded by waves; spike wave bursts are specifically associated with complete behavioral arrest for the durationof the discharge
- e wave bursts are specifically associated with complete behavioral arrest for the durationof the discharge

tonic-clonic seizures
- mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days og age; seizures are usually of less than one minute and are preceded by several seconds of wild running

seizures
- Background Sensitivity - spike-wave seizure activity is markedly enhanced compared to homozygotes on congenic backgrounds; seizures are longer in duration and very frequent by 4 weeks of age and persist several months

mortality/aging

premature death
- Background Sensitivity - most of the affected F1 and F2 hybrids survive 6 months

nervous system phenotype

seizures
- Background Sensitivity - spike-wave seizure activity is markedly enhanced compared to homozygotes on congenic backgrounds; seizures are longer in duration and very frequent by 4 weeks of age and persist several months

absence seizures
- e wave bursts are specifically associated with complete behavioral arrest for the durationof the discharge
- electrocorticographic recording from 4-5 week old (SJL x B6) F2 mutants display frequent episodes of generalized bilaterally symmetric spike-wave activity with a rhythmic periodicity ranging from 3 to 4.5 seconds; spikes are always preceded by waves; spike wave bursts are specifically associated with complete behavioral arrest for the durationof the discharge

tonic-clonic seizures
- mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days og age; seizures are usually of less than one minute and are preceded by several seconds of wild running

Genotype: Slc9a1^swe/Slc9a1^swe
(SJL/J-Slc9a1 x B6.SJL-Slc9a1)F1

mortality/aging

preweaning lethality, incomplete penetrance
- Background Sensitivity - 33% of mutants die before weaning compared to 62% on an SJL background

premature death

The following phenotype relates to a compound genotype created using this strain

Genotype: Slc9a1^swe/Slc9a1^swe
SJL/J-Slc9a1/J

behavior/neurological phenotype

abnormal gait
- affected mice have a wide-based gait

ataxia
- ataxia is moderate to severe most prominent in the hindlimbs
- mutant mice are easily recognizeable from normal siblings by 11-14 days of age based on their ataxic gait and smaller size

seizures
- Background Sensitivity - spike-wave discharges from homozygotes are detected at 4-5 weeks but are brief (less than 1.5 sec) and rare (1-4/hour) and do not progress in duration or frequency when assessed at 2-3 months of age; these are not detected in mice surviving beyond months

abnormal locomotor coordination

tonic-clonic seizures
- mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days og age; seizures are usually of less than one minute and are preceded by several seconds of wild running

nervous system phenotype

tonic-clonic seizures
- mutants undergo rare spontaneous generalized tonic-clonic seizure episodes as early as 14 days og age; seizures are usually of less than one minute and are preceded by several seconds of wild running

seizures
- Background Sensitivity - spike-wave discharges from homozygotes are detected at 4-5 weeks but are brief (less than 1.5 sec) and rare (1-4/hour) and do not progress in duration or frequency when assessed at 2-3 months of age; these are not detected in mice surviving beyond months

growth/size/body region phenotype

decreased body size
- affected mice are recognizeable from normal siblings at 11-14 days of age based on slightly smaller size and ataxic gait

mammalian phenotype

growth/size/body region phenotype

mortality/aging

postnatal lethality
- more than half of the homozygotes die before weaning

premature death
- Background Sensitivity - only an occasional mutant on the SJL background survives beyond 6 months
- 62% die by weaning and, with rare exception, the remainder die by 35-40 days of age probably from a lethal convulsive episode

References

Cox GA; Lutz CM; Yang CL; Biemesderfer D; Bronson RT; Fu A; Aronson PS ; Noebels JL ; Frankel WN. 1997. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 91(1):139-48PubMed: 9335342 MGI: J:43429

Additional - Slc9a1^swe related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Slc9a1
- Separated PCR:Slc9a1
- Genotyping resources and troubleshooting
Appearance
- albino, ataxic
  Related Genotype: Tyr^c/Tyr^c Slc9a1^swe/Slc9a1^swe
  
  albino, unaffected
  Related Genotype: Tyr^c/Tyr^c +/+ or Tyr^c/Tyr^c Slc9a1^swe/+
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
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Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Heterozygous or Wild-type for Slc9a1<swe>

Related Products and Services

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's Genotype Promise

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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Email: TechTran@jax.org

Also Known As:slow-wave epilepsy

Genetic overview

Research Applications

Base Price

Detailed Description

Control Suggestions

Additional Information

Selected References

Slc9a1swe

Allele Symbol: Slc9a1swe

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Slc9a1swe related

Mammalian Phenotype Terms by Genotype

Genotype: Slc9a1swe/Slc9a1sweB6.SJL-Slc9a1

behavior/neurological phenotype

growth/size/body region phenotype

mortality/aging

nervous system phenotype

Genotype: Slc9a1swe/Slc9a1sweinvolves: C57BL/6J * SJL/J

behavior/neurological phenotype

mortality/aging

nervous system phenotype

Genotype: Slc9a1swe/Slc9a1swe(SJL/J-Slc9a1 x B6.SJL-Slc9a1)F1

mortality/aging

Genotype: Slc9a1swe/Slc9a1sweSJL/J-Slc9a1/J

behavior/neurological phenotype

nervous system phenotype

growth/size/body region phenotype

mammalian phenotype

mortality/aging

References

Additional - Slc9a1swe related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Slc9a1^swe

Allele Symbol: Slc9a1^swe

Genotype: Slc9a1^swe related

Genotype: Slc9a1^swe/Slc9a1^swe
B6.SJL-Slc9a1

Genotype: Slc9a1^swe/Slc9a1^swe
involves: C57BL/6J * SJL/J

Genotype: Slc9a1^swe/Slc9a1^swe
(SJL/J-Slc9a1 x B6.SJL-Slc9a1)F1

Genotype: Slc9a1^swe/Slc9a1^swe
SJL/J-Slc9a1/J

Additional - Slc9a1^swe related