OMIA 000754-9615 : Osteogenesis imperfecta, generic in Canis lupus familiaris

In other species: domestic cat , cattle , sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 166210 , 166220 , 259420

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: no

Cross-species summary: Abnormally brittle bones that fracture easily.

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Golden Retriever Osteogenesis imperfecta COL1A1 missense c.1276G>C p.G208A 2000 11147834

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2000 Lazar, T., deHaan, J.J., Peck, J.N., Campbell, B.G., Ginn, P.E., Phillips, L., Suero, A., Chase, J. :
Osteogenesis imperfecta in three dogs from a single litter Veterinary & Comparative Orthopaedics & Traumatology 13:23-27, 2000.
1997 Campbell, B.G., Wootton, J.A.M., Krook, L., Demarco, J.A., Minor, R.R. :
Clinical signs and diagnosis of osteogenesis imperfecta in three dogs Journal of the American Veterinary Medical Association 211:183 ff., 1997. Pubmed reference: 9227748.
1991 Konig, F. :
Case Report - Osteogenesis Imperfecta in a German Shepherd Puppy Kleintierpraxis 36:583, 1991.
1960 Lettow, E., Dammrich, K. :
[Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin 7:936-966, 1960.
1956 Calkins, E., Kalm, D., Diner, W.C. :
Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta' Annals of the New York Academy of Sciences 64:410-423, 1956.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 13 Jul 2017
  • Changed by Frank Nicholas on 18 Sep 2017