Strain Name:

SJL/J-Slc9a1swe/J

Stock Number:

003011

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Availability:

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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.
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Specieslaboratory mouse

Appearance
albino, ataxic
Related Genotype: Tyrc/Tyrc Slc9a1swe/Slc9a1swe

albino, unaffected
Related Genotype: Tyrc/Tyrc +/+ or Tyrc/Tyrc Slc9a1swe/+

Description
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.

Control Information

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

Related Strains

Strains carrying   Slc9a1swe allele
003012   B6.SJL-Slc9a1swe/J
View Strains carrying   Slc9a1swe     (1 strain)

Strains carrying other alleles of Slc9a1
013742   FVB.Cg-Slc9a1tm1Smb/Mmjax
View Strains carrying other alleles of Slc9a1     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Slc9a1swe/Slc9a1swe

        SJL/J-Slc9a1swe/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/body phenotype
  • *normal* growth/size/body 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 is associated with a similar, but not exact match to this JAX® Mice strain.

Slc9a1swe/Slc9a1swe

        B6.SJL-Slc9a1swe
  • 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/body 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 Purkinje cell morphology
    • Purkinje cell axons are hypertrophic   (MGI Ref ID J:199873)
    • Purkinje cell degeneration
      • Purkinje cell axon degeneration in the cerebella at 4 months of age   (MGI Ref ID J:199873)
      • however, no loss of Purkinje cells is detected in the cerebellum   (MGI Ref ID J:199873)
  • abnormal axon morphology
    • Purkinje cell axons are hypertrophic   (MGI Ref ID J:199873)
    • abnormal synaptic bouton morphology
      • swollen and displaced Purkinje cell axon collateral boutons are seen as early as P14   (MGI Ref ID J:199873)
  • 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)
  • axon degeneration
    • Purkinje cell axon degeneration in the cerebella at 4 months of age   (MGI Ref ID J:199873)
  • 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)
    • Purkinje cell degeneration
      • Purkinje cell axon degeneration in the cerebella at 4 months of age   (MGI Ref ID J:199873)
      • however, no loss of Purkinje cells is detected in the cerebellum   (MGI Ref ID J:199873)
  • 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)

Slc9a1swe/Slc9a1swe

        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)

Slc9a1swe/Slc9a1swe

        (SJL/J-Slc9a1swe x B6.SJL-Slc9a1swe)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:

Slc9a1swe 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 OriginSJL/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; PPP1R143; 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

Slc9a1swe, Pyrosequencing
Slc9a1swe, 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

Slc9a1swe 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]

Liu Y; Zaun HC; Orlowski J; Ackerman SL. 2013. CHP1-Mediated NHE1 Biosynthetic Maturation Is Required for Purkinje Cell Axon Homeostasis. J Neurosci 33(31):12656-69. [PubMed: 23904602]  [MGI Ref ID J:199873]

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


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant 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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