| Primary Identifier | MGI:109257 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 20595 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable RNA binding activity; fibroblast growth factor binding activity; and identical protein binding activity. Acts upstream of or within several processes, including axonogenesis; microtubule depolymerization; and positive regulation of RNA splicing. Located in several cellular components, including COPI-coated vesicle; Cajal body; and growth cone. Is expressed in several structures, including blastocyst-stage conceptus; central nervous system; early embryo; eye; and gonad. Used to study Werdnig-Hoffmann disease and juvenile spinal muscular atrophy. Human ortholog(s) of this gene implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Orthologous to human SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric). PHENOTYPE: Homozygotes for targeted null mutations exhibit cell loss and peri-implantation lethality. Muscle-specific KO mice show muscle necrosis leading to paralysis and death. Neuron-specific KO mice show muscle degeneration associated with loss of motor axons. [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
