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Article

SCNM1, a putative RNA splicing factor that modifies disease severity in mice.

Science (New York, N.Y.) - 15 Aug 2003

Buchner David A, Trudeau Michelle, Meisler Miriam H

Abstract excerpt

The severity of many inherited disorders is influenced by genetic background. We describe a modifier interaction in C57BL/6Jmice that converts a chronic movement disorder into a lethal neurological disease. The primary mutation (medJ) changes a splice donor site of the sodium channel gene Scn8a (Nav1.6). The modifier mutation is characteristic of strain C57BL/6Jand introduces a nonsense codon into sodium channel...

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Source

Identifiers

PMID: 12920299
DOI: 10.1126/science.1086187

Genes

SCNM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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