Primary Identifier | MGI:1934923 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 73835 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in bone mineralization; bone morphogenesis; and in utero embryonic development. Located in plasma membrane. Is expressed in several structures, including bone; genitourinary system; limb cartilage condensation; perichondrium; and spleen. Used to study osteogenesis imperfecta type 5. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 5. Orthologous to human IFITM5 (interferon induced transmembrane protein 5). PHENOTYPE: Homozygous null mice exhbit smaller skeletons, partial prenatal and postnatal lethality, and small litter sizes. Mice that survive to adulthood still exhibit shorter bones but other skeletal defects are no longer seen. [provided by MGI curators] |