A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting

Journal of Neuroscience

Volumn 16, Issue 19, 1996, Pages 5993-5999

  Kohrman, David C ^a   Smith, Marianne R ^b   Goldin, Alan L ^b   Harris, John ^c   Meisler, Miriam H ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

ataxia; cerebellum; med; mouse; mutation; Purkinje; Scn8a; sodium channel

Indexed keywords

SODIUM CHANNEL;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CEREBELLAR ATAXIA; CEREBELLUM; DEPOLARIZATION; ELECTROPHYSIOLOGY; MISSENSE MUTATION; MOUSE; NERVE ENDING; NONHUMAN; PRIORITY JOURNAL; PURKINJE CELL;

EID: 0029789472     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.16-19-05993.1996     Document Type: Article

References (33)

1. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410.
2. Auld VJ, Goldin AL, Krafte DS, Catterall WA, Lester HA, Davidson N, Dunn RJ (1990) A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel. Proc Natl Acad Sci USA 87:323-327.
3. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCN1A. Nature Genet 8:136-140.
4. Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM, Spear B, Meisler MH (1995) Mutation of a new sodium channel gene, Scn8a, in the mouse mutant "motor endplate disease." Nature Genet 10:461-465.
5. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427.
6. Cannon SC (1996) Ion-channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci 19:3-10.
7. Cannon SC, Brown Jr RH, Corey DP (1993) Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J 65:270-288.
8. Catterall WA (1992) Cellular and molecular biology of voltage-gated sodium channels. Physiol Rev 72:S15-S48.
9. D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T (1995) A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374:719-23.
10. Dick DJ, Boakes RJ, Harris JB (1985) A cerebellar abnormality in the mouse with motor end-plate disease. Neuropathol Appl Neurobiol 11:141-147.
11. Dickie MM (1965) Jolting. Mouse News Lett 32:44.
12. Duchen LW, Stefani E (1971) Electrophysiological studies of neuromuscular transmission in hereditary "motor endplate disease" of the mouse. J Physiol (Lond) 212:535-548.
13. Goldin AL (1991) Expression of ion channels by injection of mRNA into Xenopus oocytes. Methods Cell Biol 36:487-509.
14. Hamilton BA, Frankel WN, Kerrebrock AW, Hawkins TL, FitzHugh W, Kusumi K, Russell LB, Mueller KL, van Berkel V, Birren BW, Kruglyak L, Lander ES (1996) Disruption of the nuclear hormone receptor RORα in staggerer mice. Nature 379:736-739.
15. Harris JB, Pollard SL (1986) Neuromuscular transmission in the murine mutants "motor end-plate disease" and "jolting." J Neurol Sci 76:239-253.
16. Harris JB, Boakes RJ, Court JA (1992) Physiological and biochemical studies on the cerebellar cortex of the murine mutants "jolting" and "motor end-plate disease." J Neurol Sci 110:186-194.
17. + channel. Nature 353:86-90.
18. Ito M (1982) The cerebellum and neural control. New York: Raven.
19. Kohrman DC, Plummer NW, Schuster T, Jones JM, Jang W, Burgess DL, Galt J, Spear BT, Meisler MH (1995) Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15. Genomics 26:171-177.
20. j alleles of the sodium channel Scn8a: unusual splicing due to a minor class AT-AC intron. J Biol Chem 271:17576-17581.
21. Kontis KJ, Goldin AL (1993) Site-directed mutagenesis of the putative pore region of the rat IIA sodium channel. Mol Pharmacol 43:635-644.
22. Kunkel TA (1985) Rapid and efficient site-specific mutagenesis without phenotypic selection. Proc Natl Acad Sci USA 82:488-492.
23. Llinas R, Sugimori M (1980a) Electrophysiological properties of in vitro Purkinje cell somata in mammalian cerebellar slices. J Physiol (Lond) 305:171-195.
24. Llinas R, Sugimori M (1980b) Electrophysiological properties of in vitro Purkinje cell dendrites in mammalian cerebellar slices. J Physiol (Lond) 305:197-203.
25. McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF (1992) The genomic structure of the human skeletal muscle sodium channel gene. Hum Mol Genet 1:521-527.
26. + channels. Proc Natl Acad Sci USA 88:2931-2935.
27. Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS (1995) A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nature Genet 11:126-129.
28. Patton DE, Goldin AL (1991) A voltage-dependent gating transition induces use-dependent block by tetrodotoxin of rat IIA sodium channels expressed in Xenopus oocytes. Neuron 7:637-647.
29. Ptácek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, Leppert MF (1994) Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 44:1500-1503.
30. Schaller KL, Krzemien DM, Yarowsky PJ, Krueger BK, Caldwell JH (1995) A novel, abundant sodium channel expressed in neurons and glia. J Neurosci 15:3231-3242.
31. Sidman RL, Cowen JS, Eicher EM (1979) Inherited muscle and nerve diseases in mice: a tabulation and commentary. Ann NY Acad Sci 317:497-505.
32. + channels. Neuron 16:321-331.
33. Taglialatela M, Toro L, Stefani E (1992) Novel voltage clamp to record small, fast currents from ion channels expressed in Xenopus oocytes. Biophys J 61:78-82.