| Primary Identifier | MGI:1341284 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 69269 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme binding activity. Involved in alternative mRNA splicing, via spliceosome. Acts upstream of or within RNA splicing. Located in nuclear speck. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XIX. Orthologous to human SCNM1 (sodium channel modifier 1). PHENOTYPE: The Scnm1 locus influences the severity of the Scn8amed-J phenotype. Mice carrying the recesive susceptibility allele of the modifier are paralyzed and do not survive beyond 1 month. Mice carryimg the resistant allele display progressive dystonia with ataxia and live more than 1.5 years. [provided by MGI curators] |
| specificity | Scnm1 was originally isolated as a disease modifier gene that is required for efficient in vivo splicing of a mutant splice donor site in the sodium channel locus, Scn8a. The wild-type alelle of the modifier results in correct splicing of 10% of Scn8a[medJ] pre-mRNA and a dystonic phenotype. Wild type alleles have been identified in strains C3HeB/FeJ, A/J, DBA/2J,129S6 and 129X1. The susceptible allele of the modifier in strain C57BL/6J results in 5% correctly spliced transcripts and a lethal phenotype. |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
