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 Coisogenic; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype d

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.

Related Strains

Strains carrying other alleles of Cacna2d2

005050	B6;CByJ-Cacna2d2du-3J/J
012889	B6N;TKDU-Myo5ad Cacna2d2du/J

View Strains carrying other alleles of Cacna2d2     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Cacna2d2^du-2J/Cacna2d2^du-2J

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

• nervous system phenotype
• *normal* nervous system phenotype
  • at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer   (MGI Ref ID J:70845)
• • abnormal axon morphology
    • mice exhibit axonal swelling   (MGI Ref ID J:116185)
    • however, there is no evidence of microglial activation   (MGI Ref ID J:116185)
  • abnormal cerebellum morphology
    • at P15, the cerebella is smaller than in wild-type mice   (MGI Ref ID J:116185)
  • • abnormal Purkinje cell morphology
      • the somatic calcium current within Purkinje cells is reduced 30%   (MGI Ref ID J:116185)
      • Purkinje cells are smaller and more densely packed than in wild-type mice   (MGI Ref ID J:116185)
      • however, arborization is normal   (MGI Ref ID J:116185)
  • abnormal nervous system electrophysiology
    • 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   (MGI Ref ID J:116185)
    • the minimum amount of depolarization current required to induce firing is increased compared to in wild-type Purkinje cells   (MGI Ref ID J:116185)
    • at 22^oC spontaneous Purkinje cell firing is decreased and irregular   (MGI Ref ID J:116185)
    • at 34^oC Purkinje cells exhibit no spontaneous firing   (MGI Ref ID J:116185)
  • • abnormal brain wave pattern
      • mice exhibit spike-wave discharge on cortical electroencephalogram   (MGI Ref ID J:70845)
  • absence seizures
    • accompany the spike-wave discharges   (MGI Ref ID J:70845)
  • • abnormal spike wave discharge   (MGI Ref ID J:70845)
• behavior/neurological phenotype
• abnormal involuntary movement
  • dyskinesia   (MGI Ref ID J:70845)
• absence seizures
  • accompany the spike-wave discharges   (MGI Ref ID J:70845)
• • abnormal spike wave discharge   (MGI Ref ID J:70845)
• ataxia   (MGI Ref ID J:70845)

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
Channel and Transporter Defects
      calcium
Epilepsy

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Cacna2d2du-2J
Allele Name		ducky 2 Jackson
Allele Type		Spontaneous
Common Name(s)		du2J;
Strain of Origin		C57BLKS/J
Gene Symbol and Name		Cacna2d2, calcium channel, voltage-dependent, alpha 2/delta subunit 2
Chromosome		9
Gene Common Name(s)		CACNA2D; LUAC11.1; a2d2; du; ducky; nmf299; td; torpid;
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. [MGI Ref ID J:70845]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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):6095-104. [PubMed: 11487633]  [MGI Ref ID J:70845]

Additional References

Cacna2d2^du-2J related

Donato R; Page KM; Koch D; Nieto-Rostro M; Foucault I; Davies A; Wilkinson T; Rees M; Edwards FA; Dolphin AC. 2006. The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression. J Neurosci 26(48):12576-86. [PubMed: 17135419]  [MGI Ref ID J:116185]

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 heterozygotes.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

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

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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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