Important information: The study on vitreous bone disease in Dachshunds will continue free of charge in 2012. However, due to the decreased number of samples we have to charge a processing fee of 15 Euros for blood samples and 30 Euros for hair root samples from 01.03.2012.
Brittle bone disease or osteogenesis imperfecta (OI) is a hereditary disorder of bone formation that leads to very brittle and glassy looking bones already in puppies. Osteogenesis imperfecta is very rare and has only been diagnosed in a few breeds, including the Beagle and Dachshund.
Various genetic defects are possible causes of the disease. In the mutations (changes in the genetic material) in the respective genes that are causative for brittle bone disease, collagen formation is disturbed. Collagen is a protein that is crucial for the elasticity of bones. In the case of brittle bone disease, a stable collagen triple helix cannot be formed in the bone, resulting in bone fractures under mild mechanical stress. As a result of the congenital bone formation disorder and the resulting reduced bone density, even puppies have extremely fragile bones and often suffer multiple fractures at birth. Affected animals either die as a result of the disease or have to be euthanized. The formation of the enamel is also disturbed, so that the blood vessels under the enamel show through. As a result, the teeth of these puppies appear glassy and pink. This also gave the vitreous bone disease the name "pink-tooth-disease". Comparable to the increased bone fragility, the teeth are also extremely unstable and break off easily. Furthermore, the brittle bone disease sometimes occurs together with a blue discoloration of the eye leather skin, hearing loss or short stature.
Recently, it has been possible to elucidate the corresponding mutation in Dachshund families by means of a genetic test (Drögemüller et al. 2009). Diseased animals show a point mutation in the SERPINH1 gene. This mutation can now be diagnosed by means of a genetic test. The development of this genetic test offers responsible breeders new possibilities to plan their breeding conscientiously and to breed defect-free animals by careful breeding selection. The genetic diversity of the Dachshund population will not be restricted if the test results are applied in such a way that all animals are not required to be free of defects already in the first generation.
In order to avoid the clinical picture of brittle bone disease, one parent must be anlage-free, as brittle bone disease is inherited in a monogenic autosomal recessive manner. A positive test result does not mean that your dog must be excluded from breeding. Even a carrier of brittle bone disease may continue to be used for breeding, provided it is bred to an animal without the disease.
Free test for osteogenesis imperfecta in the Dachshund
At the Institute for Animal Breeding and Genetics, we do research for the health of dogs. As part of a study on the spread of brittle bone disease, we offer you the opportunity to have your Dachshund tested for osteogenesis imperfecta free of charge. The aim of the study is to find out whether the test for brittle bone disease can be applied to all breeds of Dachshund by hair type and size, and whether the disease is only line-specific. Furthermore, it is in our interest to find out how often vitreous bone disease really occurs in the dachshund population, as it is so far unclear how many of these animals are affected by vitreous bone disease, especially in stillborn puppies. If you notice the symptoms described on our homepage in a puppy, please contact us, as samples from affected animals are very valuable for our further research. We are grateful for any support for our study on vitreous bone disease in Dachshunds