| Primary Identifier | MGI:2151208 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 74777 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity and oxidoreductase activity. Involved in skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration. Acts upstream of or within several processes, including L-ascorbic acid transmembrane transport; cellular response to caffeine; and skeletal muscle tissue development. Is active in endoplasmic reticulum; mitochondria-associated endoplasmic reticulum membrane contact site; and mitochondrial membrane. Is expressed in several structures, including diaphragm; embryo mesenchyme; limb; liver; and nervous system. Used to study rigid spine muscular dystrophy 1. Human ortholog(s) of this gene implicated in rigid spine muscular dystrophy 1. Orthologous to human SELENON (selenoprotein N). PHENOTYPE: Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration. Mice homozygous for a different knock-out allele exhibit subtle core lesions in skeletal muscle after induced oxidative stress and abnormal lung development. [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
