Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Nav1.6) and a genetically linked retinal mutation, rd13

Mammalian Genome

Volumn 15, Issue 5, 2004, Pages 344-351

  Buchner, David A ^a   Seburn, Kevin L ^b   Frankel, Wayne N ^b   Meisler, Miriam H ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ALLELE; ANIMAL MODEL; ARTICLE; BODY POSTURE; CHROMOSOME 15; CONTROLLED STUDY; DYSTONIA; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HIND LIMB PARALYSIS; HOMOZYGOSITY; JUVENILE LETHALITY; LETHALITY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MOUSE; MOUSE STRAIN; MUTAGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PARALYSIS; PDE1B GENE; PHENOTYPE; PROTEIN DOMAIN; RETINA; SCN8A GENE;

ALKYLATING AGENTS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ETHYLNITROSOUREA; GENES, RECESSIVE; GENETIC COMPLEMENTATION TEST; MICE; MICE, NEUROLOGIC MUTANTS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; NERVOUS SYSTEM DISEASES; PHENOTYPE; RETINA; SEQUENCE HOMOLOGY, AMINO ACID; SODIUM CHANNELS;

ANIMALIA;

EID: 2342588075     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00335-004-2332-1     Document Type: Article

References (45)

1. Acland GM, Ray K, Mellersh CS, Langston AA, Rine J et al. (1999) A novel retinal degeration locus identified by linkage and comparative mapping of canine early retinal generation. Genomics 59, 134-142
2. Balling R (2001) ENU mutagenesis: analyzing gene function in mice. Annu Rev Genomics Hum Genet 2, 463-492
3. v1.6 is expressed along nonmyelinated axons and it contributes to conduction. Brain Res Mol Brain Res 105, 19-28
4. Blake JA, Richardson JE, Bult CJ, Kadin JA, Eppig JT, Mouse Genome Database Group (2003) MGD: the Mouse Genome Database. Nucleic Acids Res 31, 193-195
5. Boiko T, Rasband MN, Levinson SR, Caldwell JH, Mandel G et al. (2001) Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon. Neuron 30, 91-104
6. Boiko T, Van Wart A, Caldwell JH, Levinson SR, Trimmer JS et al. (2003) Function specialization of the axon initial segment by isoform-specific sodium channel targetting. J Neurosci 23, 2306-2313
7. Breen M, Jouquand S, Renier C, Mellersh CS, Hitte C et al. (2001) Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes. Genome Res 11, 1784-1795
8. Buchner DA, Trudeau M, Meisler MH (2003) Scnm1, a putative RNA splicing factor that modifies disease severity in mice. Science 301, 967-969
9. Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM et al. (1995) Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nat Genet 10, 461-465
10. Caldwell JH, Schaller KL, Lasher RS, Peles E, Levinson SR (2000) Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses, Proc Natl Acad Sci USA 97, 5616-5620
11. Catterall WA (2000) From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 26, 13-25
12. Chen Z, Alcayaga C, Suarez-Isla BA, O'Rourke B, Tomaselli G et al. (2002) A "minimal" sodium channel construct consisting of ligated S5-P-S6 segments forms a toxin-activatable ionophore. J Biol Chem 277, 24653-24658
13. Deschenes I, Baroudi G, Berthet M, Barde I, Chalvidan T et al. (2000) Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512 W and R1432G) syndromes. Cardiovasc Res 46, 55-65
14. Guy HR, Durrell SR (1995) Structural models of Na+, Ca2+, and K+ channels. Soc Gen Physiol Ser 50, 1-16
15. Hamann M, Meisler MH, Richter A (2003) Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia. Exp Neurol 23, 184: 830-838
16. Herron BI, Lu W, Rao C, Liu S, Peters H et al. (2002) Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet 30, 185-189
17. Hilber K, Sandtner W, Kudlacek O, Glaaser IW, Weisz E et al. (2001) The selectivity filter of the voltage-gated sodium channel is involved in channel activation. J Biol Chem 276, 27831-27839
18. Jenkins SM, Bennett V (2001) Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments. J Cell Biol 155, 739-746
19. Ji W, Chen F, Do T, Do A, Roe BA et al. (2001) DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes. Mamm Genome 12, 456-461
20. Justice MJ (2000) Capitalizing on large-scale mouse mutagenesis screens. Nat Rev Genet 1, 109-115
21. v1.6). Hum Mol Genet 11, 2765-2775
22. Khaliq ZM, Gouwens NW, Raman IM (2003) The contribution of resurgent sodium current to high-frequency firing in Purkinje neurons: an experimental modeling sodium. J Neurosci 23, 4899-4912
23. Kile BT, Hentges KE, Clark AT, Nakamura H, Salinger AP et al. (2003) Functional genetic analysis of mouse chromosome 11. Nature 425, 81-86
24. Kohling R (2002) Voltage-gated sodium channels in epilepsy. Epilepsia 43, 1278-1295
25. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC et al. (2001) Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 104, 3081-3086
26. Lander ES, Green P, Abrahamson J, Barlow A, Daly MJ et al. (1987) MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics 1, 174-181
27. Lipkind GM, Fozzard HA (2000) KcsA crystal structure as framework for a molecular model of the Na(+) channel pore. Biochemistry 39, 8161-8170
28. 5 Dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. J Neurosci 21, 2268-2277
29. Meisler MH, Sprunger LK, Plummer NW, Escayg A, Jones JM (1997) Ion channel mutations in mouse models of inherited neurological disease. Ann Med 29, 569-574
30. Meisler MH, Kearney J, Escayg A, MacDonald BT, Sprunger LK (2001a) Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. Neuroscientist 7, 136-145
31. Meisler MH, Kearney J, Ottman R, Escayg A (2001b) Identification of epilepsy genes in human and mouse. Annu Rev Genet 35, 567-588
32. Mouse Genome Sequencing Consortium (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562
33. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K (2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295, 17-23
34. Pittler SJ, Baehr W (1991) Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci USA 88, 8322-8326
35. Raman IM, Sprunger LK, Meisler MH, Bean BP (1997) Altered subthreshold sodium currents and disrupted firing patterns in purkinje neurons of Scn8a mutant mice. Neuron 19, 881-891
36. Rinchik EM, Carpenter DA (1999) N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations. Genetics 152, 373-383
37. 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
38. Sprunger LK, Escayg A, Tallaksen-Greene S, Albin RL, Meisler MH (1999) Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier loccus Scnm1 on mouse chromosome 3. Hum Mol Genet 8, 471-479
39. v1.1 mutations cause febrile seizures associated with agebrile partial seizures. Neurology 57, 703-705
40. v1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 54, 201-207
41. Thaung C, West K, Clark BJ, McKie L, Morgan JE et al. (2002) Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet 11, 755-767
42. Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H et al. (2002) Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 30, 257-258
43. Williams RW, Flaherty L, Threadgill DW (2003) The math of making mutation mice. Genes Brain Behav 2, 191-200
44. Yamagishi T, Li RA, Hsu K, Marban E, Tomaselli GF (2001) Molecular architecture of the voltage-dependent Na channel: functional evidence for alpha helices in the pore. J Gen Physiol 118, 171-182
45. Yu FH, Catterall WA (2003) Overview of the voltage-gated sodium channel family. Genome Biol 4, 207