Strain Name:

C57BL/6J-Szt1/FrkJ

Stock Number:

004587

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Availability:

Cryopreserved - Ready for recovery

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

Former Names C57BL/6J-Szt1    (Changed: 15-DEC-04 )
Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse

Appearance
black, small
Related Genotype: a/a Szt1/+

black
Related Genotype: a/a +/+

Description
Mice heterozygous for the Szt1 mutation are characterized through low thresholds for minimal electroconvulsive and PTZ induced tonic-clonic seizures. Although these mice do not exhibit spontaneous seizures and have a normal EEG, they might be useful for studying neurobiological mechanisms related to epilepsy. The mutants are smaller than wild-type littermates, but are generally viable and fertile. Homozygous Szt1 mice die approximately 12hrs after birth of apparent pulmonary atelectasis. While Szt1 mutants were initially discovered following ENU induced mutagenesis, subsequent examination of G0 founder DNA suggested that Szt1 represents a spontaneous, not an ENU induced mutation. The Szt1 mutation represents a genomic deletion of about 300 kb of mouse chromosome 2. The deletion involves several genes including those encoding the potassium channel, Kcnq2, and the nicotinic acetylcholine receptor subunit, Chrna4. Mutations in the respective human homologues are associated with human familial epilepsy.

Mapping with yellow fluorescent protein showed an approximately 40% reduction of hippocampal, but not cortical, neurons compared to wild-type littermates. Examination of liver, heart, spleen, kidneys, gastro-intestinal tract, muscles, and gonads did not show any other gross abnormalities (See Yang et al., 2003).

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Szt1/Szt1+

        C57BL/6J-Szt1
  • behavior/neurological phenotype
  • abnormal seizure response to electrical stimulation
    • mice exhibit electrically induced seizures   (MGI Ref ID J:136510)
    • however, mice do not exhibit spontaneous seizures   (MGI Ref ID J:136510)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • mice exhibit normal nervous system morphology   (MGI Ref ID J:136510)
    • abnormal seizure response to electrical stimulation
      • mice exhibit electrically induced seizures   (MGI Ref ID J:136510)
      • however, mice do not exhibit spontaneous seizures   (MGI Ref ID J:136510)

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

Szt1/Szt1

        involves: BALB/cByJ * BALB/cJ * C57BL/6J
  • mortality/aging
  • complete neonatal lethality
    • mice die approximately 12 hrs after birth of apparent pulmonary atelectasi   (MGI Ref ID J:82964)
  • respiratory system phenotype
  • atelectasis
    • mice die approximately 12 hrs after birth of apparent pulmonary atelectasis   (MGI Ref ID J:82964)

Szt1/Szt1+

        involves: BALB/cByJ * BALB/cJ * C57BL/6J
  • behavior/neurological phenotype
  • abnormal seizure response to electrical stimulation
    • low thresholds for minimal electroconvulsive induced tonic-clonic seizures   (MGI Ref ID J:82964)
  • abnormal seizure response to pharmacological agent
    • low thresholds for PTZ induced tonic-clonic seizures   (MGI Ref ID J:82964)
  • growth/size/body phenotype
  • decreased body length
    • measurements showed heterozygotes were 3-5% shorter than wild-type controls   (MGI Ref ID J:82964)
  • decreased body weight
    • heterozygotes weighed 4-8% less than wild-type littermates   (MGI Ref ID J:82964)
  • nervous system phenotype
  • abnormal hippocampus CA3 region morphology
    • gross examination revealed a malformed CA3 region between the two dentate gyrus blades   (MGI Ref ID J:82964)
  • abnormal seizure response to electrical stimulation
    • low thresholds for minimal electroconvulsive induced tonic-clonic seizures   (MGI Ref ID J:82964)
  • abnormal seizure response to pharmacological agent
    • low thresholds for PTZ induced tonic-clonic seizures   (MGI Ref ID J:82964)
  • decreased hippocampus pyramidal cell number
    • hippocampus contained ~40% fewer pyramidal neurons   (MGI Ref ID J:82964)
View Research Applications

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

Szt1 related

Developmental Biology Research
Postnatal Lethality
      Homozygous

Neurobiology Research
Channel and Transporter Defects
      potassium
Epilepsy
      electroconvulsive seizures
Neuroscience Mutagenesis Facility Strain

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Szt1
Allele Name seizure threshold 1
Allele Type Spontaneous
Strain of OriginC57BL/6J
Gene Symbol and Name Szt1, seizure threshold 1
Chromosome 2
Molecular Note The Szt1 mutation represents a genomic deletion of about 300 kb of mouse chromosome 2. The deletion involves 3 known genes including those encoding the potassium channel, Kcnq2, and the nicotinic acetylcholine receptor subunit, Chrna4, and ADP-ribosylation factor GTPase activating protein 1, Arfgap1. [MGI Ref ID J:82964]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Szt1 related

Kearney JA; Yang Y; Beyer B; Bergren SK; Claes L; Dejonghe P; Frankel WN. 2006. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum Mol Genet 15(6):1043-8. [PubMed: 16464983]  [MGI Ref ID J:136510]

Otto JF; Yang Y; Frankel WN; White HS; Wilcox KS. 2006. A spontaneous mutation involving Kcnq2 (Kv7.2) reduces M-current density and spike frequency adaptation in mouse CA1 neurons. J Neurosci 26(7):2053-9. [PubMed: 16481438]  [MGI Ref ID J:105698]

Otto JF; Yang Y; Frankel WN; Wilcox KS; White HS. 2004. Mice carrying the szt1 mutation exhibit increased seizure susceptibility and altered sensitivity to compounds acting at the m-channel. Epilepsia 45(9):1009-16. [PubMed: 15329063]  [MGI Ref ID J:102345]

Yang Y; Beyer BJ; Otto JF; O'Brien TP; Letts VA; White HS; Frankel WN. 2003. Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold. Hum Mol Genet 12(9):975-84. [PubMed: 12700166]  [MGI Ref ID J:82964]

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* $2525.00
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 - Strains Requiring Specialized Phenotyping.
    At least two untested males and two untested females (two pairs) will be recovered from cryopreserved stocks and will require specialized phenotyping in order to identify animals carrying the mutation of interest. We do not perform the phenotyping for this strain. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. We will ship you all of the recovered mice (a minimum of two pair, typically eight or more). We cannot guarantee that you will receive or be able to identify animals of the phenotype of interest. Please be advised that a new order and cryorecovery fee will be necessary to recover additional mice, if needed. Because recovery efficiency and viability can vary, a second cryorecovery sometimes may be required in order to complete this order, which may extend the time for order completion to 25 weeks. If this situation occurs, we will notify you of the delay. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.

    Please contact Customer Service for more information: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). 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.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
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 - Strains Requiring Specialized Phenotyping.
    At least two untested males and two untested females (two pairs) will be recovered from cryopreserved stocks and will require specialized phenotyping in order to identify animals carrying the mutation of interest. We do not perform the phenotyping for this strain. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. We will ship you all of the recovered mice (a minimum of two pair, typically eight or more). We cannot guarantee that you will receive or be able to identify animals of the phenotype of interest. Please be advised that a new order and cryorecovery fee will be necessary to recover additional mice, if needed. Because recovery efficiency and viability can vary, a second cryorecovery sometimes may be required in order to complete this order, which may extend the time for order completion to 25 weeks. If this situation occurs, we will notify you of the delay. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.

    Please contact Customer Service for more information: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). 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.

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.

Control Information

  Control
   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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