Osteogenesis imperfecta in Holstein-Friesian calves.
Eight calves with osteogenesis imperfecta were born in a Danish Holstein-Friesian herd during a two-year period. In total 92 calves were born (84 normal), and all were sired by a clinically normal Holstein-Friesian bull. The defect was probably due to a de novo dominant mutation present as a gonadal mosaicism in the bull. Affected calves were characterised by multiple fractures, congenital bone deformations, general joint laxity, dentinogenesis imperfecta, and light blue sclerae. The skin seemed normal. Electron microscopical studies revealed slightly decreased average diameter of cutaneous collagen fibrils, while the diameter of collagen fibrils in tendons and ligaments was severely reduced. Abnormalities of collagen type I from skin and compact bone were not detected by biochemical analyses.
Agerholm
J S
JS
National Veterinary Laboratory, University Hospital, Royal Veterinary and Agricultural University, Copenhagen, Denmark.
Lund
A M
AM
Bloch
B
B
Reibel
J
J
Basse
A
A
Arnbjerg
J
J
D000818:Animals; D001947:Breeding; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000473:pathology / Q000662:veterinary*