Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3.

doi:10.1093/hmg/8.3.471

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Article

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3.

Human molecular genetics - 1 Mar 1999

Sprunger L K, Escayg A, Tallaksen-Greene S, Albin R L, Meisler M H

Abstract excerpt

The mouse mutant medJ contains a splice site mutation in the neuronal sodium channel Scn8a that results in a very low level of expression. On a C57BL/6J genetic background, medJ homozygotes exhibit progressive paralysis and juvenile lethality. The C3H genetic background has an ameliorating effect...

Topics

Animals
Central Nervous System
Chromosome Mapping
Crosses, Genetic
Disease Models, Animal
Dystonia
Homozygote
Humans
Mice
Mice, Inbred C3H
Mice, Inbred C57BL
Mice, Mutant Strains

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Mutation

NAV1.6 Voltage-Gated Sodium Channel

Nerve Tissue Proteins

Phenotype

RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 9949206
DOI: 10.1093/hmg/8.3.471

Genes

SCNM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9949206-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3.PMID 9949206Read ↗

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