| Primary Identifier | MGI:88283 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12406 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables unfolded protein binding activity. Acts upstream of or within several processes, including chondrocyte development involved in endochondral bone morphogenesis; collagen biosynthetic process; and collagen fibril organization. Located in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; eye; metanephros; and skeleton. Used to study osteogenesis imperfecta type 10. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 10 and preterm premature rupture of the membranes. Orthologous to human SERPINH1 (serpin family H member 1). PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. Mice homozygous for a conditional allele activated in chondrocytes exhibit complete perinatal lethality, cleft palate, respiratory distress, abnormal chondocytes and bone formation. [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
