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Publication : Fragilitas ossium (fro/fro) in the mouse: a model for a recessively inherited type of osteogenesis imperfecta.

First Author  Sillence DO Year  1993
Journal  Am J Med Genet Volume  45
Issue  2 Pages  276-83
PubMed ID  8456819 Mgi Jnum  J:3906
Mgi Id  MGI:52411 Doi  10.1002/ajmg.1320450227
Citation  Sillence DO, et al. (1993) Fragilitas ossium (fro/fro) in the mouse: a model for a recessively inherited type of osteogenesis imperfecta. Am J Med Genet 45(2):276-83
abstractText  The fragilitas ossium (fro/fro) mutation in the mouse has been demonstrated to have clinical, radiographic and morphologic manifestations similar to those which arise in autosomal recessive forms of osteogenesis imperfecta (OI) occurring in humans. Approximately 90% of mutant offspring in the mouse were perinatally lethal with clinical and roentgenographic findings similar to those of OI type II subgroup A in humans. The 10% of mutant mice surviving follow a course very similar to severe progressively deforming OI type III. In surviving mice, there is progressive fore-limb and hind-limb bowing in the absence of a high fracture frequency.
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