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 7.0.0) 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 cellular response to caffeine; response to muscle activity involved in regulation of muscle adaptation; and skeletal muscle tissue development. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum 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] |