TY - JOUR
T1 - Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’
AU - Burgess, Daniel L.
AU - Kohrman, David C.
AU - Galt, James
AU - Plummer, Nicholas W.
AU - Jones, Julie M.
AU - Spear, Brett
AU - Meisler, Miriam H.
PY - 1995/8
Y1 - 1995/8
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 α 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.
AB - 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 α 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.
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U2 - 10.1038/ng0895-461
DO - 10.1038/ng0895-461
M3 - Article
C2 - 7670495
AN - SCOPUS:0029111866
VL - 10
SP - 461
EP - 465
IS - 4
ER -