Fragilitas ossium (fro/fro) in the mouse: a model for a recessively inherited type of osteogenesis imperfecta.
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.
Sillence
D O
DO
Department of Paediatrics and Child Health, University of Sydney, Australia.
Ritchie
H E
HE
Dibbayawan
T
T
Eteson
D
D
Brown
K
K
D000818:Animals; D001842:Bone and Bones / Q000648:ultrastructure; D003433:Crosses, Genetic; D004195:Disease Models, Animal; D005260:Female; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology