| Primary Identifier | MGI:1928482 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 56758 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable double-stranded RNA binding activity and regulatory region RNA binding activity. Involved in several processes, including embryonic limb morphogenesis; in utero embryonic development; and myoblast differentiation. Acts upstream of or within alternative mRNA splicing, via spliceosome; mRNA splice site recognition; and skeletal muscle tissue development. Located in cytoplasm and nucleus. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and retina. Used to study myotonic disease and myotonic dystrophy type 1. Orthologous to human MBNL1 (muscleblind like splicing regulator 1). PHENOTYPE: Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects. [provided by MGI curators] |
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
