Osteogenesis imperfecta in Holstein-Friesian calves. 1994

J S Agerholm, and A M Lund, and B Bloch, and J Reibel, and A Basse, and J Arnbjerg
National Veterinary Laboratory, University Hospital, Royal Veterinary and Agricultural University, Copenhagen, Denmark.

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.

UI MeSH Term Description Entries
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010013 Osteogenesis Imperfecta COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D001947 Breeding The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants. Breedings
D002417 Cattle Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor. Beef Cow,Bos grunniens,Bos indicus,Bos indicus Cattle,Bos taurus,Cow,Cow, Domestic,Dairy Cow,Holstein Cow,Indicine Cattle,Taurine Cattle,Taurus Cattle,Yak,Zebu,Beef Cows,Bos indicus Cattles,Cattle, Bos indicus,Cattle, Indicine,Cattle, Taurine,Cattle, Taurus,Cattles, Bos indicus,Cattles, Indicine,Cattles, Taurine,Cattles, Taurus,Cow, Beef,Cow, Dairy,Cow, Holstein,Cows,Dairy Cows,Domestic Cow,Domestic Cows,Indicine Cattles,Taurine Cattles,Taurus Cattles,Yaks,Zebus
D002418 Cattle Diseases Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. Bovine Diseases,Bovine Disease,Cattle Disease,Disease, Bovine,Disease, Cattle,Diseases, Bovine,Diseases, Cattle
D005260 Female Females
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia

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