Osteo Imperfecta

This unpublished dataset is based on the [B6C3F1-Col1a2oim strain](http://www.informatics.jax.org/strain/MGI:5650881) and the [Col1a2 gene](https://www.alliancegenome.org/gene/MGI:88468), which: Enables SMAD binding activity. Acts upstream of or within several processes, including bone mineralization; extracellular matrix assembly; and protein heterotrimerization. Located in extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; embryo mesenchyme; and genitourinary system. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (collagen type I alpha 2 chain).