Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F?+7+N1F11pN1 Generation Definitions

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/+

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 Information

	Control
	Heterozygote from the colony
	Wild-type from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Slc9a1^swe allele

003012

B6.SJL-Slc9a1swe/J

View Strains carrying   Slc9a1^swe     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Slc9a1^swe/Slc9a1^swe

        SJL/J-Slc9a1^swe/J

• mortality/aging
• postnatal lethality
  • more than half of the homozygotes die before weaning   (MGI Ref ID J:43429)
• premature death
  • 62% die by weaning and, with rare exception, the remainder die by 35-40 days of age probably from a lethal convulsive episode   (MGI Ref ID J:43429)
  • only an occasional mutant on the SJL background survives beyond 6 months   (MGI Ref ID J:43429)
• behavior/neurological phenotype
• abnormal locomotor coordination   (MGI Ref ID J:43429)
• • abnormal gait
    • affected mice have a wide-based gait   (MGI Ref ID J:43429)
  • ataxia
    • mutant mice are easily recognizeable from normal siblings by 11-14 days of age based on their ataxic gait and smaller size   (MGI Ref ID J:43429)
    • ataxia is moderate to severe most prominent in the hindlimbs   (MGI Ref ID J:43429)
• seizures
  • 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)
• nervous system phenotype
• seizures
  • 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)
• growth/size phenotype
• *normal* growth/size phenotype   (MGI Ref ID J:43429)
• • decreased body size
    • affected mice are recognizeable from normal siblings at 11-14 days of age based on slightly smaller size and ataxic gait   (MGI Ref ID J:43429)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Slc9a1^swe/Slc9a1^swe

        B6.SJL-Slc9a1^swe

• mortality/aging
• partial postnatal lethality
  • more than half of the homozygotes die before weaning   (MGI Ref ID J:43429)
• 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   (MGI Ref ID J:43429)
• growth/size phenotype
• decreased body size
  • mutants are slightly smaller than wild-type littermates at weaning   (MGI Ref ID J:43429)
• 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   (MGI Ref ID J:43429)
• 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)
• nervous system phenotype
• abnormal cerebellar molecular layer
  • occasional dystrophic axons are seen in and around the cerebellar molecular layer   (MGI Ref ID J:43429)
• 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)
• abnormal vestibular ganglion morphology
  • progressive degeneration of vestibular nuclei is also observed but fewer neurons are affected at each timepoint examined   (MGI Ref ID J:43429)
• cochlear ganglion degeneration
  • progressive degeneration of cochlear nuclei is also observed but fewer neurons are affected at each timepoint examined   (MGI Ref ID J:43429)
• 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   (MGI Ref ID J:43429)
• 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)

Slc9a1^swe/Slc9a1^swe

        involves: C57BL/6J * SJL/J

• mortality/aging
• premature death
  • most of the affected F1 and F2 hybrids survive 6 months   (MGI Ref ID J:43429)
• behavior/neurological phenotype
• behavioral arrest
  • associated with absence seizures   (MGI Ref ID J:43429)
• seizures
  • 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)
  • 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   (MGI Ref ID J:43429)
• nervous system phenotype
• seizures
  • 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   (MGI Ref ID J:43429)
• • 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   (MGI Ref ID J:43429)
  • 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   (MGI Ref ID J:43429)

Slc9a1^swe/Slc9a1^swe

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

• mortality/aging
• partial preweaning lethality
  • 33% of mutants die before weaning compared to 62% on an SJL background   (MGI Ref ID J:43429)
• premature death   (MGI Ref ID J:43429)

View Research Applications

Research Applications

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

Slc9a1^swe related

Cell Biology Research
Channel and Transporter Defects
      sodium/hydrogen

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

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Slc9a1swe
Allele Name		slow-wave epilepsy
Allele Type		Spontaneous
Common Name(s)		swe;
Strain of Origin		SJL/J
Gene Symbol and Name		Slc9a1, solute carrier family 9 (sodium/hydrogen exchanger), member 1
Chromosome		4
Gene Common Name(s)		APNH; AW554487; Apnh; NHE-1; NHE1; Nhe1; antiporter; antiporter, Na+/H+; expressed sequence AW554487; slow-wave epilepsy; sodium/hydrogen exchanger 1 (antiporter, Na+/H+, amiloride sensitive); swe;
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).

Genotyping

Genotyping Information

Genotyping Protocols

Slc9a1^swe, Pyrosequencing
Slc9a1^swe, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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):139-48. [PubMed: 9335342]  [MGI Ref ID J:43429]

Additional References

Slc9a1^swe related

Gu XQ; Yao H; Haddad GG. 2001. Increased neuronal excitability and seizures in the Na(+)/H(+) exchanger null mutant mouse. Am J Physiol Cell Physiol 281(2):C496-503. [PubMed: 11443048]  [MGI Ref ID J:70872]

Sin WC; Moniz DM; Ozog MA; Tyler JE; Numata M; Church J. 2009. Regulation of early neurite morphogenesis by the Na+/H+ exchanger NHE1. J Neurosci 29(28):8946-59. [PubMed: 19605632]  [MGI Ref ID J:151573]

Stiernet P; Nenquin M; Moulin P; Jonas JC; Henquin JC. 2007. Glucose-induced cytosolic pH changes in beta-cells and insulin secretion are not causally related: studies in islets lacking the Na+/H+ exchangeR NHE1. J Biol Chem 282(34):24538-46. [PubMed: 17599909]  [MGI Ref ID J:124660]

Wu KL; Khan S; Lakhe-Reddy S; Wang L; Jarad G; Miller RT; Konieczkowski M; Brown AM; Sedor JR; Schelling JR. 2003. Renal tubular epithelial cell apoptosis is associated with caspase cleavage of the NHE1 Na+/H+ exchanger. Am J Physiol Renal Physiol 284(4):F829-39. [PubMed: 12453872]  [MGI Ref ID J:113586]

Xia Y; Zhao P; Xue J; Gu XQ; Sun X; Yao H; Haddad GG. 2003. Na+ channel expression and neuronal function in the Na+/H+ exchanger 1 null mutant mouse. J Neurophysiol 89(1):229-36. [PubMed: 12522174]  [MGI Ref ID J:103108]

Yao H; Ma E; Gu XQ; Haddad GG. 1999. Intracellular pH regulation of CA1 neurons in Na(+)/H(+) isoform 1 mutant mice. J Clin Invest 104(5):637-45. [PubMed: 10487778]  [MGI Ref ID J:57470]

Zhao P; Ma MC; Qian H; Xia Y. 2005. Down-regulation of delta-opioid receptors in Na+/H+ exchanger 1 null mutant mouse brain with epilepsy. Neurosci Res 53(4):442-6. [PubMed: 16297477]  [MGI Ref ID J:106614]

Zhou D; Xue J; Gavrialov O; Haddad GG. 2004. Na+/H+ exchanger 1 deficiency alters gene expression in mouse brain. Physiol Genomics 18(3):331-9. [PubMed: 15306696]  [MGI Ref ID J:106319]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
	Wild-type from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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.

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