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 Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse H2 Haplotype b

Description
Homozygotes for the tottering 4 Jackson allele exhibit a phenotype similar to that of mice homozygous for the tottering allele. Mice have an ataxic gait, with high stepping, waggling movements and paroxysomal dyskinesia. EEG recordings reveal 5-7 Hz spike wave discharges accompanied by behavioral arrest lasting up to 1.8 sec and ocurring an average of four times per hour. This seizure phenotype is less severe than in tottering mice. Unique among the tottering alleles, tg-4J causes altered activation and inactivation kinetics of the voltage-dependent calcium channel. This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.

Development
This spontaneous mutation arose at The Jackson Laboratory in a colony of C3H/HeJBir in the laboratory of Dr. Edward Birkenmeier in 1996. It was backcrossed to C57BL/6J for a minimum of 10 generations in the laboratory of Dr. Wayne Frankel and Dr. Verity Letts. The strain was donated to the Repository in 2008.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Cacna1a

008623	B10.Cg-Cacna1aTg-5J/LetJ
008816	B6.129S7-Cacna1atm1Hzo/J
008815	B6.129S7-Cacna1atm2Hzo/J
008683	B6.129S7-Cacna1atm3Hzo/J
000566	B6.Cg-Os +/+ Cacna1atg-la/J
000544	B6.D2-Cacna1atg/J
005520	B6;CByJ-Cacna1atg-6J/J

View Strains carrying other alleles of Cacna1a     (7 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Cacna1a^tg-4J/Cacna1a^tg-4J

        B6.C3Bir-Cacna1a^tg-4J

• behavior/neurological phenotype
• abnormal motor capabilities/coordination/movement
  • paroxysmal dyskinesia   (MGI Ref ID J:137816)
• • ataxia
    • gait has pronounced high-stepping, waggling movements   (MGI Ref ID J:137816)
• absence seizures
  • EEG recordings indicate spike wave discharges lasting up to 1.8 s and occurring an average of four times per hour   (MGI Ref ID J:137816)
  • seizures are accompanied by behavioral arrest   (MGI Ref ID J:137816)
  • seizures are abolished by treatment with ethosuximide   (MGI Ref ID J:137816)
• nervous system phenotype
• abnormal Purkinje cell morphology
  • Purkinje neuron cell bodies are smaller than control   (MGI Ref ID J:137816)
• • abnormal Purkinje cell dendrite morphology
    • slight thickening of secondary dendrites   (MGI Ref ID J:137816)
• abnormal axon morphology
  • axonal swelling is observed in Purkinje cells   (MGI Ref ID J:137816)
• abnormal nervous system electrophysiology
  • current amplitude and capacitance, but not density, are reduced in Purkinje cells   (MGI Ref ID J:137816)
  • calcium channel voltage dependent activation is shifted toward more depolarized potentials   (MGI Ref ID J:137816)
• absence seizures
  • EEG recordings indicate spike wave discharges lasting up to 1.8 s and occurring an average of four times per hour   (MGI Ref ID J:137816)
  • seizures are accompanied by behavioral arrest   (MGI Ref ID J:137816)
  • seizures are abolished by treatment with ethosuximide   (MGI Ref ID J:137816)

View Research Applications

Research Applications

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

Cell Biology Research
Channel and Transporter Defects
      calcium

Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects
      Purkinje cell defect
Channel and Transporter Defects
      calcium
Epilepsy

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Cacna1atg-4J
Allele Name		tottering 4 Jackson
Allele Type		Spontaneous
Strain of Origin		C3H/HeJBir
Gene Symbol and Name		Cacna1a, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Chromosome		8
Gene Common Name(s)		APCA; BI; BccA1; CACNL1A4; CAV2.1; Ccha1a; EA2; FHM; HPCA; MHP; MHP1; SCA6; alpha1A; calcium channel alpha 1a; la; leaner; neuroscience mutagenesis facility, 352; nmf352; rbA-1; rkr; rocker; tg; tottering;
Molecular Note		A T to C substitution at nucleotide 1742 results in a change from valine to alanine. [MGI Ref ID J:137816]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Miki T; Zwingman TA; Wakamori M; Lutz CM; Cook SA; Hosford DA; Herrup K; Fletcher CF; Mori Y; Frankel WN; Letts VA. 2008. Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies. Neuroscience 155(1):31-44. [PubMed: 18597946]  [MGI Ref ID J:137816]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice are bred as homozygotes.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

• This strain is included in the Mouse Mutant Resource collection.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

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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.

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