Ataxic mouse mutants and molecular mechanisms of absence epilepsy

Human Molecular Genetics

Volumn 8, Issue 10, 1999, Pages 1907-1912

  Fletcher, Colin F ^a   Frankel, Wayne N ^b  

^a NATIONAL CANCER INSTITUTE   (United States)

^b JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; VOLTAGE GATED CHANNEL FORMING PROTEIN;

ANIMAL MODEL; ATAXIA; ENZYME SUBUNIT; EPILEPSY; GENE MUTATION; MOUSE; MOUSE MUTANT; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ANIMALS; ATAXIA; CALCIUM CHANNELS; CALCIUM CHANNELS, P-TYPE; CALCIUM CHANNELS, Q-TYPE; EPILEPSY, ABSENCE; MICE; MICE, NEUROLOGIC MUTANTS; MUTATION; NERVE TISSUE PROTEINS;

EID: 0032837377     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.10.1907     Document Type: Review

References (57)

1. Anderson, V.E., Hauser, W.A. and Rieh, S.S. (1999) Genetic heterogeneity and epidemiology of the epilepsies. In Delgado-Escueta, A.V., Wilson, W.A., Olsen, R.W. and Porter, R.J. (eds), Jasper's Basic Mechanisms of the Epilepsies, 3rd Edn. Lippincott Williams & Wilkens, Philadelphia, PA, Vol. 79.
2. Charlier, C., Singh, N.A., Ryan, S.G., Lewis, T.B., Reus, B.E., Leach, R.J. and Leppert, M. (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family, Nature Genet., 18, 53-55.
3. Singh, N.A., Charlier, C., Stauffer, D., DuPont, B.R., Leach, R.J., Melis, R., Ronen, G.M., Bjerre, I., Quattlebaum, T., Murphy, J.V., McHarg, M.L., Gagnon, D., Rosales, T.O., Peiffer, A., Anderson, V.E. and Leppert, M. (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet., 18, 25-29.
4. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E. and Berkovic, S.F. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet., 11, 201-203.
5. Ottman, R., Hauser, W.A., Barker-Cummings, C., Lee, J.H. and Risch, N. (1997) Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results. Am. J. Hum. Genet., 60, 667-675.
6. Neumann, P.E. and Collins, R.L. (1991) Genetic dissection of susceptibility to audiogenic seizures in crosses of inbred mice. Proc. Natl Acad. Sci. USA, 88, 5408-5412.
7. Rise, M.L., Frankel, W.N., Coffin, J.M. and Seyfried, T.N. (1991) Genes for epilepsy mapped in the mouse. Science, 253, 669-673.
8. Frankel, W.N., Taylor, B.A., Noebels, J.L. and Lutz, C.M. (1994) Genetic epilepsy model derived from common inbred mouse strains. Genetics, 138, 481-489.
9. Frankel, W.N., Valenzuela, A., Lutz, C.M., Johnson, E.W., Dietrich, W.F. and Coffin, J.M. (1995) New seizure frequency QTL and the complex genetics of epilepsy in EL mice. Mamm. Genome, 6, 830-838.
10. Frankel, W.N., Johnson, E.W. and Lutz, C.M. (1995) Congenic strains reveal effects of the epilepsy quantitative trait locus, E12, separate from other El loci. Mamm. Genome, 6, 839-843.
11. Ferraro, T.N., Golden, G.T., Smith, G.G., Schork, N.J., St Jean, P., Ballas, C., Choi, H. and Berrettini, W.H. (1997) Mapping murine loci for seizure response to kainic acid. Mamm. Genome, 8, 200-208.
12. Ferraro, T.N., Golden, G.T., Snyder, R., Laibinis, M., Smith, G.G., Buono, R.J. and Berrettini, W.H. (1998) Genetic influences on electrical seizure threshold. Brain Res., 813, 207-210.
13. Ferraro, T.N., Schill, J.F., Ballas, C., Mulholland, N., Golden, G.T., Smith, G.G., Buono, R.J. and Berrettini, W.H. (1998) Genotyping microsatellite polymorphisms by agarose gel electrophoresis with ethidium bromide staining: application to quantitative trait loci analysis of seizure susceptibility in mice. Psychiatr. Genet., 8, 227-233.
14. Noebels, J.L. (1996) Targeting epilepsy genes. Neuron, 16, 241-244.
15. Homanics, G.E., DeLorey, T.M., Firestone, L.L., Quinlan, J.J., Handforth, A., Harrison, N.L., Krasowski, M., Rick, C.E., Korpi, E.R., Makela, R., Brilliant, M.H., Hagiwara, N., Ferguson, C., Snyder, K. and Olsen, R.W. (1997) Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc. Natl Acad. Sci. USA, 94, 4143-4148.
16. Brusa, R., Zimmermann, F., Koh, D.-S., Feldmeyer, D., Gass, P., Seeburg, P.H. and Sprengel, R. (1995) Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science, 270, 1677-1680.
17. Smart, S.L., Lopantsev, V., Zhang, C.L., Robbins, C.A., Wang, H., Chiu, S.Y., Schwartzkroin, P.A., Messing, A. and Tempel, B.L. (1998) Deletion of the Kv1.1 potassium channel causes epilepsy in mice. Neuron, 20, 809-819.
18. Tecott, L.H., Sun, L.M., Akana, S.F., Strack, A.M., Lowenstein, D.H., Dallman, M.F. and Julius, D. (1995) Eating disorder and epilepsy in mice lacking 5-HT2C serotonin receptors. Nature, 374, 542-546.
19. Erickson, J.C., Clegg, K.E. and Palmiter, R.D. (1996) Sensitivity to leptin and susceptibility to seizures of mice lacking neuropeptide Y. Nature, 381, 415-418.
20. Kim, D., Jun, K.S., Lee, S.B., Kang, N.G., Min, D.S., Kim, Y.H., Ryu, S.H., Suh, P.G. and Shin, H.S. (1997) Phospholipase C isozymes selectively couple to specific neurotransmitter receptors. Nature, 389, 290-293.
21. 2+/calmodulin-dependent kinase II alpha subunit mutation. Proc. Natl Acad. Sci. USA, 92, 6852-6855.
22. Kash, S.F., Johnson, R.S., Tecott, L.H., Noebels, J.L., Mayfield, R.D., Hanahan, D. and Baekkeskov, S. (1997) Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc. Natl Acad. Sci. USA, 94, 14060-14065.
23. Waymire, K.G., Jaje, J.M., Mahuren, D., Guilarte, T., Coburn, S.P. and MacGregor, G.R. (1995) Mice lacking tissue non-specific alkaline phosphalase die from seizures due to defective metabolism of vitamin B-6. Nature Genet., 11, 45-51.
24. Acampora, D., Mazan, S., Avantaggiato, V., Barone, P., Tuorto, F., Lallemand, Y., Brulet, P. and Simeone, A. (1996) Epilepsy and brain abnormalities in mice lacking the Otx 1 gene. Nature Genet., 14, 218-222.
25. Yamamoto, A., Takagi, H., Kitamura, D., Tatsuoka, H., Nakano, H., Kawano, H., Kuroyanagi, H., Yahagi, Y., Kobayashi, S., Koizumi, K., Sakai, T., Saito, K., Chiba, T., Kawamura, K., Suzuki, K., Watanabe, T., Mori, H. and Shirasawa, T. (1998) Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy. J. Neurosci., 18, 2063-2074.
26. Noebels, J.L. (1986) Mutational analysis of inherited epilepsies. In Delgado-Escueta, A.V., Ward, A.A., Woodbury, D.M. and Porter, R.J. (eds), Basic Mechanisms of the Epilepsies: Molecular and Cellular Approaches. Raven Press, New York, NY, Vol. 44, pp. 97-113.
27. Fletcher, C.F., Lutz, C.M., O'Sullivan, T.N., Shaughnessy, J.D.Jr, Hawkes, R., Frankel, W.N., Copeland, N.G. and Jenkins, N.A. (1996) Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell, 87, 607-617.
28. 2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell, 88, 385-392.
29. 2+-channel gamma subunit. Nature Genet., 19, 340-347.
30. Cox, G.A., Lutz, C.M., Yang, C.L., Biemesderfer, D., Bronson, R.T., Fu, A., Aronson, P.S., Noebels, J.L. and Frankel, W.N. (1997) Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell, 91, 139-148.
31. Steingrimsson, E., Moore, K.J., Lamoreux, M.L., Ferre-D'Amare, A.R., Burley, S.K., Zimring, D.C., Skow, L.C., Hodgkinson, C.A., Arnheiter, H., Copeland, N.G. et al. (1994) Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature Genet., 8, 256-263.
32. Green, M.C. and Sidman, R.L. (1962) Tottering - a neuromuscular mutation in the mouse. J. Hered., 53, 79-94.
33. Noebels, J.L. and Sidman, R.L. (1979) Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science, 204, 1334-1336.
34. Campbell, D.B. and Hess, E.J. (1998) Cerebellar circuitry is activated during convulsive episodes in the tottering (tg/tg) mutant mouse. Neuroscience, 85, 773-783.
35. Levitt, P. and Noebels, J.L. (1981) Mutant mouse tottering: selective increase of locus ceruleus axons in a defined single-locus mutation. Proc. Natl Acad. Sci. USA, 78, 4630-4634.
36. Hess, E.J. and Wilson, M.C. (1991) Tottering and leaner mutations perturb transient developmental expression of tyrosine hydroxylase in embryologically distinct Purkinje cells. Neuron, 6, 123-132.
37. Wakamori, M., Yamazaki, K., Matsunodaira, H., Teramoto, T., Tanaka, I., Niidome, T., Sawada, K., Nishizawa, Y., Sekiguchi, N., Mori, E., Mori, Y. and Imoto, K. (1998) Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J. Biol. Chem., 273, 34857-34867.
38. tg) mouse thalami. J. Neurophysiol., 81, 2066-2074.
39. Doroshenko, P.A., Woppmann, A., Miljanich, G. and Augustine, G.J. (1997) Pharmacologically distinct presynaptic calcium channels in cerebellar excitatory and inhibitory synapses. Neuropharmacology, 36, 865-872.
40. Campbell, D.B. and Hess, E.J. (1999) L-type calcium channels contribute to the tottering mouse dystonic episodes. Mol. Pharmacol., 55, 23-31.
41. 2+/calmodulin binds to and modulates P/Q-type calcium channels. Nature, 399, 155-159.
42. Nishimura, K. (1976) Rolling mouse Nagoya. Studies on the pathology of and clinical symptoms associated with cerebellar conical cells. Mod. Med., 31, 226-232.
43. Mukoyama, M. and Mizuno, M. (1976) The cerebellum of rolling mouse nagoya. Light- and electronmicroscopic observations. Mod. Med., 31, 233-236.
44. Terwindt, G.M., Ophoff, R.A., Haan, J., Sandkuijl, L.A., Frants, R.R. and Ferrari, M.D. (1998) Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Eur. J. Hum. Genet., 6, 297-307.
45. McEnery, M.W., Copeland, T.D. and Vance, C.L. (1998) Altered expression and assembly of N-type calcium channel alpha1B and beta subunits in epileptic lethargic (lh/lh) mouse. J. Biol. Chem., 273, 21435-21438.
46. Herring, J.M., Dung, H.C., Yoo, J.H. and Yu, J. (1981) Chronological studies of peripheral motor nerve conduction in 'lethargic' mice. Electromyogr. Clin. Neurophysiol., 21, 121-134.
47. 2+ channel subunit compositions in lethargic mouse brain. Mol. Cell. Neurosci., 13, 293-311.
48. Qiao, X., Hefti, F., Knusel, B. and Noebels. J.L. (1996) Selective failure of brain-derived neurotrophic factor mRNA expression in the cerebellum of stargazer, a mutant mouse with ataxia. J. Neurosci., 16, 640-648.
49. Qiao, X., Chen, L., Gao, H., Bao, S., Hefti, F., Thompson, R.F. and Knusel, B. (1998) Cerebellar brain-derived neurotrophic factor-TrkB defect associated with impairment of eyeblink conditioning in Stargazer mutant mice. J. Neurosci., 18, 6990-6999.
50. Thompson, C.L., Tehrani, M.H.J., Barnes, E.M.Jr and Stephenson, F.A. (1998) Decreased expression of GABAA receptor alpha6 and beta3 subunits in stargazer mutant mice: a possible role for brain-derived neurotrophic factor in the regulation of cerebellar GABAA receptor expression? Brain Res. Mol. Brain. Res., 60, 282-290.
51. Lin, F.H., Wang, Y., Lin, S., Cao, Z. and Hosford, D.A. (1995) GABAB receptor-mediated effects in synaptosomes of lethargic (lh/lh) mice. J. Neurochem., 65, 2087-2095.
52. Qiao, X. and Noebels, J.L. (1992) GABAb receptor-independent spike-wave epilepsy in the mutant mouse stargazer. Pharmacol. Commun., 2, 125.
53. Hosford, D.A. and Cao, Z. (1992) GABAb antagonists selectively block generalized absence seizures in lethargic (lh/lh) but not tottering (tg/tg) mice. Pharmacol. Commun., 2, 167-168.
54. Qiao, X. and Noebels, J.L. (1991) Genetic and phenotypic heterogeneity of inherited spike-wave epilepsy: two mutant gene loci with independent cerebral excitability defects. Brain Res., 555, 43-50.
55. Rinchik, E.M. (1991) Chemical mutagenesis and fine-structure functional analysis of the mouse genome. Trends Genet., 7, 15-21.
56. Brown, S.D. (1998) Mouse models of genetic disease: new approaches, new paradigms. J. Inherit. Metab. Dis., 21, 532-539.
57. Schimenti, J. and Bucan, M. (1998) Functional genomics in the mouse: phenotype-based mutagenesis screens. Genome Res., 8, 698-710.