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Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'.
Nat Genet. 1995 Aug; 10(4):461-5.NGen

Abstract

The mouse neurological mutant 'motor endplate disease' (med) is characterized by early onset progressive paralysis of the hind limbs, severe muscle atrophy, degeneration of Purkinje cells and juvenile lethality. We have isolated a voltage-gated sodium channel gene, Scn8a, from the flanking region of a transgene-induced allele of med. Scn8a is expressed in brain and spinal cord but not in skeletal muscle or heart, and encodes a predicted protein of 1,732 amino acids. An intragenic deletion at the transgene insertion site results in loss of expression. Scn8a is closely related to other sodium channel alpha subunits, with greatest similarity to a brain transcript from the pufferfish Fugu rubripes. The human homologue, SCN8A, maps to chromosome 12q13 and is a candidate gene for inherited neurodegenerative disease.

Authors+Show Affiliations

Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7670495

Citation

Burgess, D L., et al. "Mutation of a New Sodium Channel Gene, Scn8a, in the Mouse Mutant 'motor Endplate Disease'." Nature Genetics, vol. 10, no. 4, 1995, pp. 461-5.
Burgess DL, Kohrman DC, Galt J, et al. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nat Genet. 1995;10(4):461-5.
Burgess, D. L., Kohrman, D. C., Galt, J., Plummer, N. W., Jones, J. M., Spear, B., & Meisler, M. H. (1995). Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nature Genetics, 10(4), 461-5.
Burgess DL, et al. Mutation of a New Sodium Channel Gene, Scn8a, in the Mouse Mutant 'motor Endplate Disease'. Nat Genet. 1995;10(4):461-5. PubMed PMID: 7670495.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. AU - Burgess,D L, AU - Kohrman,D C, AU - Galt,J, AU - Plummer,N W, AU - Jones,J M, AU - Spear,B, AU - Meisler,M H, PY - 1995/8/1/pubmed PY - 1995/8/1/medline PY - 1995/8/1/entrez SP - 461 EP - 5 JF - Nature genetics JO - Nat. Genet. VL - 10 IS - 4 N2 - The mouse neurological mutant 'motor endplate disease' (med) is characterized by early onset progressive paralysis of the hind limbs, severe muscle atrophy, degeneration of Purkinje cells and juvenile lethality. We have isolated a voltage-gated sodium channel gene, Scn8a, from the flanking region of a transgene-induced allele of med. Scn8a is expressed in brain and spinal cord but not in skeletal muscle or heart, and encodes a predicted protein of 1,732 amino acids. An intragenic deletion at the transgene insertion site results in loss of expression. Scn8a is closely related to other sodium channel alpha subunits, with greatest similarity to a brain transcript from the pufferfish Fugu rubripes. The human homologue, SCN8A, maps to chromosome 12q13 and is a candidate gene for inherited neurodegenerative disease. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7670495/Mutation_of_a_new_sodium_channel_gene_Scn8a_in_the_mouse_mutant_'motor_endplate_disease'_ L2 - http://dx.doi.org/10.1038/ng0895-461 DB - PRIME DP - Unbound Medicine ER -