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Osteogenesis Imperfecta
Breeds
Relevance Rating: There is some evidence or research available for these breeds
GTPs
General
Disease Name
Osteogenesis Imperfecta
OMIA
1483
Gene Name
SERPINH1
Mutation
c.325delC
Mutation 2
c.977C>T
Test Type
Genetic Disease/Disorder
Details
Causes bones and teeth to be extremely brittle and easy to break. Joints may also be very flexible
Details 2
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I...(From Drogemuller et al, 2009)
Published
Drogemuller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M., Baumann, U., Lindblad-Toh, K., Leeb, T.: A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5:e1000579, 2009. Pubmed reference: 19629171. DOI: 10.1371/journal.pgen.1000579
Published 2
Eckardt J, Kluth S, Dierks C, Philipp U, Distl O. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec. 2013 Apr 6;172(14):364. doi: 10.1136/vr.101122. Epub 2013 Jan 12. PMID: 23315765.
Body/System/Process
Skeletal
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Dachshund
