Primary Identifier | MGI:2655574 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 14628 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within osteoclast differentiation. Located in cytosol. Is expressed in several structures, including alimentary system; hemolymphoid system gland; nervous system; skeleton; and skin. Used to study autosomal recessive osteopetrosis 5. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 5. Orthologous to human OSTM1 (osteoclastogenesis associated transmembrane protein 1). PHENOTYPE: A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span. [provided by MGI curators] |