Overview

Mice homozygous for spontaneous mutation of the calcium channel, voltage-dependent, alpha 2/delta subunit 2 gene exhibit ataxia, paroxysomal dyskinesia and absence seizures. Ducky 2J mice may be useful for studies of epilepsy and voltage-dependent calcium channels.

Genetic overview

Genetic Background	Generation

Cacna2d2^du-2J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Cacna2d2	calcium channel, voltage-dependent, alpha 2/delta subunit 2

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Research Applications

Cell Biology Research
Neurobiology 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 ducky-2J mutation exhibit ataxia and paroxysomal dyskinesia, however, they lack the "ducky" gait found in mice homozygous for the ducky allele (du) . EEG recordings reveal infrequent bilateral spike wave discharges accompanied by behavioral arrest. Absence seizures are increased in comparison to ducky mice (personal communication). This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.

Development

This spontaneous mutation arose on C57BLKS/J and was maintained by brother x sister matings in the laboratory of Dr. Wayne Frankel and Dr. Verity Letts at The Jackson Laboratory. It was donated to the Repository in 2008.

Selected References

Barclay J; Balaguero N; Mione M; Ackerman SL; Letts VA; Brodbeck J; Canti C; Meir A; Page KM; Kusumi K; Perez-Reyes E; Lander ES; Frankel WN; Gardiner RM; Dolphin AC; Rees M. 2001. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci 21(16):6095-104PubMed: 11487633 MGI: J:70845

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Genetics

Cacna2d2^du-2J

Allele Symbol: Cacna2d2^du-2J

Allele Name	ducky 2 Jackson
Allele Type	Spontaneous
Allele Synonym(s)	du^2J
Gene Symbol and Name	Cacna2d2, calcium channel, voltage-dependent, alpha 2/delta subunit 2
Gene Synonym(s)
Strain of Origin	C57BLKS/J
Chromosome	9
Molecular Note	A 2 bp deletion within exon 9 is predicted to cause a frameshift and premature truncation of the encoded protein. Northern blot analysis on mRNA derived from brain tissue of homozygous mice showed no difference in transcription levels compared to wild type, suggesting stability of the mutated transcript.

Disease/Phenotype

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

epilepsy

Research Areas By Phenotype

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

Cell Biology Research
- Channel and Transporter Defects
  - calcium
Neurobiology Research
- Channel and Transporter Defects
  - calcium
- Epilepsy
- Ataxia (Movement) Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Cacna2d2^du-2J/Cacna2d2^du-2J
involves: C57BLKS/J-Cacna2d2/LetJ

behavior/neurological phenotype

abnormal involuntary movement
- dyskinesia

abnormal spike wave discharge

absence seizures
- accompany the spike-wave discharges

ataxia

mammalian phenotype

nervous system phenotype
- Normal - at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer

nervous system phenotype

abnormal axon morphology
- Normal - however, there is no evidence of microglial activation
- mice exhibit axonal swelling

abnormal brain wave pattern
- mice exhibit spike-wave discharge on cortical electroencephalogram

abnormal cerebellum morphology
- at P15, the cerebella is smaller than in wild-type mice

abnormal nervous system electrophysiology
- at 22^oC spontaneous Purkinje cell firing is decreased and irregular
- at 34^oC Purkinje cells exhibit no spontaneous firing
- at P17 to P25, tonically firing Purkinje cells fire at a lower rate than in wild-type cells and do not depend on GABA or glutamate release
- the minimum amount of depolarization current required to induce firing is increased compared to in wild-type Purkinje cells

abnormal Purkinje cell morphology
- Normal - however, arborization is normal
- Purkinje cells are smaller and more densely packed than in wild-type mice
- the somatic calcium current within Purkinje cells is reduced 30%

abnormal spike wave discharge

absence seizures
- accompany the spike-wave discharges

Genotype: Cacna2d2^du-2J/Cacna2d2^du-2J
involves: C57BL/6 * C57BLKS/J

behavior/neurological phenotype

absence seizures
- mice exhibit an increase in spike firing irregularity within the Purkinje cell layer of the cerebellum, however Purkinje cell layer spike firing frequency and spike amplitude are unaffected
- within the granule cell layer, mice exhibit more irregular firing indicating changes in spontaneous network firing properties

ataxia

nervous system phenotype

abnormal CNS synaptic transmission
- urkinje cell synapses as seen in wild-type mice, indicating that mice lack the strong presynaptic modulation of neuronal firing by cannabinoid CB1 receptors that is seen in wild-type mice
- WIN55 (a cannabinoid receptor 1 agonist) and AM251 (a cannabinoid receptor 1 antagonist) fail to affect Purkinje cell layer spike firing frequency, spike amplitude or regularity of firing and fail to modulate sIPSC frequency or amplitude at interneuron-Purkinje cell synapses as seen in wild-type mice, indicating that mice lack the strong presynaptic modulation of neuronal firing by cannabinoid CB1 receptors that is seen in wild-type mice

abnormal miniature inhibitory postsynaptic currents
- mice exhibit increased sIPSC amplitudes at interneuron-Purkinje cell synapses, however, no differences in sIPSC frequency or regularity are seen

absence seizures
- mice exhibit an increase in spike firing irregularity within the Purkinje cell layer of the cerebellum, however Purkinje cell layer spike firing frequency and spike amplitude are unaffected
- within the granule cell layer, mice exhibit more irregular firing indicating changes in spontaneous network firing properties

Genotype: Cacna2d2^du-2J/Cacna2d2⁺
involves: C57BL/6 * C57BLKS/J

nervous system phenotype

abnormal CNS synaptic transmission
- WIN55 (a cannabinoid receptor 1 agonist) and AM251 (a cannabinoid receptor 1 antagonist) fail to affect Purkinje cell layer spike firing frequency, spike amplitude or regularity of firing and fail to modulate sIPSC frequency at interneuron-Purkinje cell synapses indicating that mice lack the strong presynaptic modulation of neuronal firing by cannabinoid CB1 receptors that is seen in wild-type mice
- ynapses indicating that mice lack the strong presynaptic modulation of neuronal firing by cannabinoid CB1 receptors that is seen in wild-type mice

References

Barclay J; Balaguero N; Mione M; Ackerman SL; Letts VA; Brodbeck J; Canti C; Meir A; Page KM; Kusumi K; Perez-Reyes E; Lander ES; Frankel WN; Gardiner RM; Dolphin AC; Rees M. 2001. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci 21(16):6095-104PubMed: 11487633 MGI: J:70845

Additional - Cacna2d2^du-2J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Cacna2d2
- Sanger sequencing:Cacna2d2-SEQ
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, these mice are bred as heterozygotes.
- Additional Breeding and Husbandry Support
Citation
When using the C57BLKS/J-Cacna2d2^du-2J/LetJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #008625 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
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Cacna2d2<du-2J>

Related Products and Services

Frozen Mouse Embryo	C57BLKS/J-Cacna2d2<du-2J>/LetJ	$2595.00
Frozen Mouse Embryo	C57BLKS/J-Cacna2d2<du-2J>/LetJ	$2595.00
Frozen Mouse Embryo	C57BLKS/J-Cacna2d2<du-2J>/LetJ	$3373.50
Frozen Mouse Embryo	C57BLKS/J-Cacna2d2<du-2J>/LetJ	$3373.50

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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. 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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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Cacna2d2du-2J

Allele Symbol: Cacna2d2du-2J

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Cacna2d2du-2J/Cacna2d2du-2Jinvolves: C57BLKS/J-Cacna2d2/LetJ

behavior/neurological phenotype

mammalian phenotype

nervous system phenotype

Genotype: Cacna2d2du-2J/Cacna2d2du-2Jinvolves: C57BL/6 * C57BLKS/J

behavior/neurological phenotype

nervous system phenotype

Genotype: Cacna2d2du-2J/Cacna2d2+involves: C57BL/6 * C57BLKS/J

nervous system phenotype

References

Additional - Cacna2d2du-2J related

Genotyping Protocols

Breeding Considerations

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

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Cacna2d2^du-2J

Allele Symbol: Cacna2d2^du-2J

Genotype: Cacna2d2^du-2J/Cacna2d2^du-2J
involves: C57BLKS/J-Cacna2d2/LetJ

Genotype: Cacna2d2^du-2J/Cacna2d2^du-2J
involves: C57BL/6 * C57BLKS/J

Genotype: Cacna2d2^du-2J/Cacna2d2⁺
involves: C57BL/6 * C57BLKS/J

Additional - Cacna2d2^du-2J related