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Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells
Open accessAbstract
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia. The ducky gene was mapped previously to distal mouse chromosome 9. High-resolution genetic and physical mapping has resulted in the identification of the Cacna2d2 gene encoding the alpha2delta2 voltage-dependent calcium channel subunit. Mutations in Cacna2d2 were found to underlie the ducky phenotype in the original ducky (du) strain and in a newly identified strain (du(2J)). Both mutations are predicted to result in loss of the full-length alpha2delta2 protein. Functional analysis shows that the alpha2delta2 subunit increases the maximum conductance of the alpha1A/beta4 channel combination when coexpressed in vitro in Xenopus oocytes. The Ca(2+) channel current in acutely dissociated du/du cerebellar Purkinje cells was reduced, with no change in single-channel conductance. In contrast, no effect on Ca(2+) channel current was seen in cerebellar granule cells, results consistent with the high level of expression of the Cacna2d2 gene in Purkinje, but not granule, neurons. Our observations document the first mammalian alpha2delta mutation and complete the association of each of the major classes of voltage-dependent Ca(2+) channel subunits with a phenotype of ataxia and epilepsy in the mouse.
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“Among other genes, CSF1Ri prevented the disease-associated suppression of Isl1 , a gene involved in motor neuron development (Liang et al. , 2011) the conditional deletion of which results in striatal cholinergic interneuron loss (Elshatory and Gan, 2008), as well as Cacna2d2 , mutations in which decrease Ca 2+ channel subunit expression and drive epileptic seizures (Barclay et al. , 2001; Pipp”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Barclay et al., 2001
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Cites
Epilepsy: A Comprehensive Textbook
(2008) · JAMA · doi:10.1001/jama.300.4.443-a · Cited by 2,357
Calcium - a life and death signal
Berridge, M. J., Bootman, M. D., & Lipp, P. (1998) · Nature · doi:10.1038/27094 · Cited by 2,081
Nomenclature of Voltage-Gated Sodium Channels
Goldin, A. L., Barchi, R. L., Caldwell, J. H., Hofmann, F. B., Howe, J. R., Hunter, J. C., Kallen, R. G., Mandel, G., Meisler, M. H., Berwald‐Netter, Y., et al. (2000) · Neuron · doi:10.1016/s0896-6273(00)00116-1 · Cited by 1,484
The Novel Anticonvulsant Drug, Gabapentin (Neurontin), Binds to the α2δ Subunit of a Calcium Channel
GEE, N. S., Brown, J. P., Dissanayake, V. U. K., Offord, J., Thurlow, R. J., & Woodruff, G. N. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.10.5768 · Cited by 1,182
Nomenclature of Voltage-Gated Calcium Channels
Ertel, E. A., Campbell, K. P., Harpold, M. M., Hofmann, F. B., Mori, Y., Perez‐Reyes, E., Schwartz, A., Snutch, T. P., Tanabe, T., Birnbaumer, L., et al. (2000) · Neuron · doi:10.1016/s0896-6273(00)81057-0 · Cited by 886
Self-citationA comprehensive genetic map of the mouse genome
Dietrich, W. F., Miller, J. C., Steen, R. G., Merchant, M. A., Damron-Boles, D., Husain, Z., Dredge, R. D., Daly, M. J., Ingalls, K. A., O'Connor, T. J., et al. (1996) · Nature · doi:10.1038/380149a0 · Cited by 827
Self-citationP-type calcium channels in rat central and peripheral neurons
Mintz, I. M., Adams, M. E., & Bean, B. P. (1992) · Neuron · doi:10.1016/0896-6273(92)90223-z · Cited by 785
Absence Epilepsy in Tottering Mutant Mice Is Associated with Calcium Channel Defects
Fletcher, C., Lutz, C. M., O’Sullivan, T. N., Shaughnessy, J. D., Hawkes, R. B., Frankel, W. N., Copeland, N. G., & Jenkins, N. A. (1996) · Cell · doi:10.1016/s0092-8674(00)81381-1 · Cited by 772
Self-citationThe mouse stargazer gene encodes a neuronal Ca2+-channel γ subunit
Letts, V. A., Felix, R., Biddlecome, G. H., Arikkath, J., Mahaffey, C. L., Valenzuela, A., Bartlett, F. S., Mori, Y., Campbell, K. P., & Frankel, W. N. (1998) · Nature Genetics · doi:10.1038/1228 · Cited by 586
Self-citationJun, K., Piedras-Rentería, E. S., Smith, S. M., Wheeler, D. B., Lee, S., Lee, T. G., Chin, H. R., Adams, M. E., Scheller, R. H., Tsien, R. W., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.26.15245 · Cited by 469
Basic mechanisms of generalized absence seizures
Snead, O. C. (1995) · Annals of Neurology · doi:10.1002/ana.410370204 · Cited by 413
Burgess, D. L., Jones, J. M., Meisler, M. H., & Noebels, J. L. (1997) · Cell · doi:10.1016/s0092-8674(00)81877-2 · Cited by 397
Structure and function of neuronal Ca2+ channels and their role in neurotransmitter release.
Catterall, W. (1998) · Cell Calcium · doi:10.1016/s0143-4160(98)90055-0 · Cited by 397
Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function
Walker, D. S., & WAARD, M. M. D. (1998) · Trends in Neurosciences · doi:10.1016/s0166-2236(97)01200-9 · Cited by 361
The Role of GABA B Receptor Activation in Absence Seizures of Lethargic ( lh / lh ) Mice
Hosford, D. A., Clark, S., Cao, Z., Wilson, W. A., Lin, F.-H., Morrisett, R. A., & Huin, A. (1992) · Science · doi:10.1126/science.1321503 · Cited by 354
Inherited Epilepsy: Spike-Wave and Focal Motor Seizures in the Mutant Mouse Tottering
Noebels, J. L., & Sidman, R. L. (1979) · Science · doi:10.1126/science.572084 · Cited by 330
DLX-1, DLX-2, and DLX-5 expression define distinct stages of basal forebrain differentiation
Eisenstat, D. D., Liu, J. K., Mione, M., Zhong, W., Yu, G. K., Anderson, S. A., Ghattas, I. R., Puelles, L., & Rubenstein, J. L. R. (1999) · The Journal of Comparative Neurology · doi:10.1002/(sici)1096-9861(19991115)414:2 · Cited by 292
Self-citationMolecular Diversity of the Calcium Channel α2δ Subunit
Klugbauer, N., Lacinová, Ľ., Marais, E., Hobom, M., & Hofmann, F. B. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-02-00684.1999 · Cited by 287
Hans, M., Luvisetto, S., Williams, M. E., Spagnolo, M., Urrutia, A., Tottene, A., Brust, P. F., Johnson, E. C., Harpold, M. M., Stauderman, K. A., et al. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-05-01610.1999 · Cited by 266
Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice
Cox, G. A., Lutz, C. M., Yang, C., Biemesderfer, D., Bronson, R. T., Fu, A. Q., Aronson, P. S., Noebels, J. L., & Frankel, W. N. (1997) · Cell · doi:10.1016/s0092-8674(01)80016-7 · Cited by 262
Self-citationSingle Tottering Mutations Responsible for the Neuropathic Phenotype of the P-type Calcium Channel
Wakamori, M., Yamazaki, K., Matsunodaira, H., Teramoto, T., Tanaka, I., Niidome, T., Sawada, K., Nishizawa, Y., Sekiguchi, N., Mori, E., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.52.34857 · Cited by 234
Sekido, Y., Bader, S., Latif, F., Chen, J. Y., Duh, F.-M. C., Wei, M. H., Albanesi, J. P., Lee, C. C., Lerman, M. I., & Minna, J. D. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.9.4120 · Cited by 232
Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures
Noebels, J. L., Qiao, X., Bronson, R. T., Spencer, C., & Davisson, M. T. (1990) · Epilepsy Research · doi:10.1016/0920-1211(90)90098-g · Cited by 204
June, K. (1999) · Medical Entomology and Zoology · Cited by 200
Gao, B., Sekido, Y., Maximov, A., Saad, M., Forgacs, E., Latif, F., Wei, M. H., Lerman, M. I., Lee, J.-H., Perez‐Reyes, E., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.16.12237 · Cited by 190
Self-citationTOTTERING—A NEUROMUSCULAR MUTATION IN THE MOUSE: And Its Linkage With Oligosyndactylism
Green, M. C., & Sidman, R. L. (1962) · Journal of Heredity · doi:10.1093/oxfordjournals.jhered.a107180 · Cited by 163
Altered Calcium Channel Currents in Purkinje Cells of the Neurological Mutant Mouseleaner
Lorenzon, N. M., Lutz, C. M., Frankel, W. N., & Beam, K. G. (1998) · Journal of Neuroscience · doi:10.1523/jneurosci.18-12-04482.1998 · Cited by 159
Self-citationBlatt, C., Eversole-Cire, P., Cohn, V. H., Zollman, S., Fournier, R. E. K., Mohandas, L. T., Nesbitt, M. N., LUGO, T. G., Jones, D., & Reed, R. R. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7642 · Cited by 155
Dove, L. S., Abbott, L. C., & Griffith, W. H. (1998) · Journal of Neuroscience · doi:10.1523/jneurosci.18-19-07687.1998 · Cited by 144
Fougerousse, F. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.2.165 · Cited by 139
DOLPHIN, A. C., Wyatt, C. N., Richards, J., Beattie, R., Craig, P. J., Lee, J. ‐., Cribbs, L. L., Volsen, S. G., & Perez‐Reyes, E. (1999) · The Journal of Physiology · doi:10.1111/j.1469-7793.1999.0035o.x · Cited by 129
Self-citationCaddick, S. J., Wang, C., Fletcher, C., Jenkins, N. A., Copeland, N. G., & Hosford, D. A. (1999) · Journal of Neurophysiology · doi:10.1152/jn.1999.81.5.2066 · Cited by 124
Cantı́, C., Page, K. M., Stephens, G. J., & DOLPHIN, A. C. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-16-06855.1999 · Cited by 122
Self-citationNeuronal distribution and functional characterization of the calcium channel α 2 δ‐2 subunit
Hobom, M., Dai, S., Marais, E., Lacinová, Ľ., Hofmann, F. B., & Klugbauer, N. (2000) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.2000.01009.x · Cited by 122
Presynaptic Ca2+Influx at a Mouse Central Synapse with Ca2+Channel Subunit Mutations
Qian, J., & Noebels, J. L. (2000) · Journal of Neuroscience · doi:10.1523/jneurosci.20-01-00163.2000 · Cited by 119
Burgess, D. L., Gefrides, L. A., Foreman, P. J., & Noebels, J. L. (2001) · Genomics · doi:10.1006/geno.2000.6440 · Cited by 110
Calcium Channel β Subunit Promotes Voltage-Dependent Modulation of α1B by Gβγ
Meir, A., Bell, D. C., Stephens, G. J., Page, K. M., & DOLPHIN, A. C. (2000) · Biophysical Journal · doi:10.1016/s0006-3495(00)76331-4 · Cited by 97
Self-citationPurkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice
Heckroth, J. A., & Abbott, L. C. (1994) · Brain Research · doi:10.1016/s0006-8993(09)90014-2 · Cited by 95
Burgess, D. L., Biddlecome, G. H., McDonough, S. I., Díaz, M. E., Zilinski, C. A., Bean, B. P., Campbell, K. P., & Noebels, J. L. (1999) · Molecular and Cellular Neuroscience · doi:10.1006/mcne.1999.0748 · Cited by 90
Characterization of Ca2+ channel currents in cultured rat cerebellar granule neurones.
Pearson, H. A., Sutton, K. G., Scott, R. H., & DOLPHIN, A. C. (1995) · The Journal of Physiology · doi:10.1113/jphysiol.1995.sp020535 · Cited by 79
Self-citationA YAC-based physical map of the mouse genome
Nusbaum, C., Slonim, D. K., Harris, K. L., Birren, B. W., Steen, R. G., Stein, L. D., Miller, J. C., Dietrich, W. F., Nahf, R., Wang, V., et al. (1999) · Nature Genetics · doi:10.1038/11967 · Cited by 76
Self-citationHaldi, M., Strickland, C., Lim, P., VanBerkel, V., Chen, X. N., Noya, D., Korenberg, J. R., Husain, Z., Miller, J. C., & Lander, E. S. (1996) · Mammalian Genome · doi:10.1007/s003359900228 · Cited by 72
Self-citationSprunger, L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.3.471 · Cited by 72
Seizure disorders in mutant mice: Relevance to human epilepsies
Puranam, R. S., & McNamara, J. O. (1999) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(99)80041-5 · Cited by 58
Hosford, D. A., Lin, F., Kraemer, D., Cao, Z., Wang, Y., & Wilson, J. (1995) · Journal of Neuroscience · doi:10.1523/jneurosci.15-11-07367.1995 · Cited by 56
Voltage Offsets in Patch-Clamp Experiments
Neher, E. (1995) · Springer eBooks · doi:10.1007/978-1-4419-1229-9_6 · Cited by 48
DUCKY, A NEW SECOND CHROMOSOME MUTATION IN THE MOUSE
Snell, G. D. (1955) · Journal of Heredity · doi:10.1093/oxfordjournals.jhered.a106505 · Cited by 42
The neuropathology of ducky, a neurological mutation of the mouse
Meier, H. (1968) · Acta Neuropathologica · doi:10.1007/bf00692792 · Cited by 39
Uchida, K., Yoshimura, A., Inazawa, J., Yanagisawa, K., Osada, H., Masuda, A., Saito, T., Takahashi, T., Miyajima, A., & Takahashi, T. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000134658 · Cited by 27
Genomic organization of the mouse and human α2δ2 voltage-dependent calcium channel subunit genes
Barclay, J., & Rees, M. (2000) · Mammalian Genome · doi:10.1007/s003350010211 · Cited by 25
Self-citationGenetic mapping of the mouse neuromuscular mutation kyphoscoliosis
Skynner, M. J., Gangadharan, U., Coulton, G. R., Mason, R. M., Nikitopoulou, A., Brown, S. D. M., & Blanco, G. (1995) · Genomics · doi:10.1016/0888-7543(95)80127-8 · Cited by 10
Mutational analysis of spike-wave epilepsy phenotypes.
Noebels, J. L. (1991) · PubMed · Cited by 7
Research works printed but not linked: 2
- Coulter DA (1997) Thalamocortical anatomy and physiology. In: Epi- lepsy: a comprehensive textbook (Pedley JE, Pedley TA, eds), pp 341-351. Philadelphia: Lippincott-Raven.
- Pearson HA, Sutton KG, Scott RH, Dolphin AC (1995) Characteriza- tion of Ca 2ϩ channel currents in cultured rat cerebellar granule neu- rones. J Physiol (Lond) 482:493-509.
Cited by
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Editorial Office (1997) · Obesity Surgery · doi:10.1381/096089297765555359 · Cited by 3,941
Molecular Physiology of Low-Voltage-Activated T-type Calcium Channels
Perez‐Reyes, E. (2003) · Physiological Reviews · doi:10.1152/physrev.00018.2002 · Cited by 1,655
Self-citationZamponi, G. W., Striessnig, J., Koschak, A., & DOLPHIN, A. C. (2015) · Pharmacological Reviews · doi:10.1124/pr.114.009654 · Cited by 1,158
Self-citationNeuronal Voltage-Gated Calcium Channels: Structure, Function, and Dysfunction
Simms, B., & Zamponi, G. W. (2014) · Neuron · doi:10.1016/j.neuron.2014.03.016 · Cited by 712
Childhood absence epilepsy: Genes, channels, neurons and networks
Crunelli, V., & Leresche, N. (2002) · Nature reviews. Neuroscience · doi:10.1038/nrn811 · Cited by 664
Metadata
- Authors
- Barclay, J., Balaguero, N., Mione, M., Ackerman, S. L., Letts, V. A., Brodbeck, J., Canti, C., Meir, A., Page, K. M., Kusumi, K., Perez-Reyes, E., Lander, E. S., Frankel, W. N., Gardiner, R. M., Dolphin, A. C., & Rees, M.
- Affiliations
- The Royal Free Hospital (GB)
- University College London (GB)
- Jackson Laboratory (US)
- Whitehead Institute for Biomedical Research (US)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2001-08-15
- Volume
- 21
- Issue
- 16
- Pages
- 6095-6104
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6763162
- OpenAlex
- W2141989757
- Cited by
- 326
- References
- 52
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 9 · 2023: 11 · 2022: 17 · 2021: 8 · 2020: 13 · 2019: 13 · 2018: 13 · 2017: 6 · 2016: 10 · 2015: 10 · 2014: 13 · 2013: 18 · 2012: 11
- FWCI
- 5.12
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Neuroscience (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Trento) (submittedVersion)
- Funders
- Wellcome Trust
- Epilepsiatutkimussäätiö
- National Institutes of Health
- Medical Research Council
- National Institute of Neurological Disorders and Stroke (R01NS032801, NS32801, R37NS031348, NS31348, R01NS031348)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- absence epilepsy, ataxia, CACNA2D2, voltage-gated calcium channels, Purkinje cells, calcium channel currents, cerebellar granule cells, mouse chromosome 9, gene mapping, Xenopus oocyte expression
- MeSH terms
- Animals, Ataxia, Brain, Cells, Cultured, Cerebellum, Chromosome Mapping, Electroencephalography, Epilepsy, Homozygote, Mice, Neurologic Mutants, Molecular Sequence Data, Mutation, Oocytes, Phenotype, Purkinje Cells, RNA, Messenger, Xenopus, Calcium Channels, In Situ Hybridization, Patch-Clamp Techniques, Reverse Transcriptase Polymerase Chain Reaction, Protein Subunits, Mice
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