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

Notes on the test

To perform the test, we need an EDTA blood sample or hair root sample from your dogs. On the following pages you will learn how the sample collection and shipping should be done. For shipping please use the provided instruction sheet. Please be sure to fill out the instruction sheet carefully.

Blood sample collection

DNA is isolated from blood cells. To perform the genetic test we need 3-5 ml EDTA blood from your dogs.

It is important to pay attention to the following points during collection and shipment:

  1. The collection of the blood should be done as sterile as possible. At least 3-5 ml of blood should be collected by the veterinarian.
  2. The sample tube must contain an anticoagulant, namely EDTA. It is very convenient to use EDTA-K Monovettes.
  3. When taking blood samples from puppies, the animals must be identified beforehand (chip, tattoo number, studbook number).
  4. Please label the monovette with the identity of the dog (name, pedigree number.) and fill out the accompanying information sheet completely.
  5. A copy of the pedigree should be enclosed with the sample.
  6. The shipment should be made as soon as possible. In no case, however, on Friday or Saturday. In this case, please store the blood in the refrigerator (approx. 4 °C) until Monday and only then send it.

Hair root samples

  1. Hair from the back or the tip of the tail is most suitable. The sampling site should be as clean as possible.
  2. At least 30-50 hairs with roots should be plucked. It is important that the hairs are plucked and not combed out or cut off. Only on the plucked hairs are still intact hair roots, which are needed for DNA isolation.
  3. Very long hairs can be shortened afterwards.
  4. The packaging should be done in a plastic bag or a plastic container.
  5. Please make absolutely sure that each sample is shipped in a separate plastic bag or container, and that hair from different dogs is not mixed together.

Please send the blood samples or hair root samples to:

Institute for Animal Breeding and Genetics of the University of Veterinary Medicine Hanover Foundation

Attn: Prof. Dr. Ottmar Distl

Bünteweg 17 p

30559 Hanover

All investigations include a scientific utilization of the results. When using the data for scientific purposes, all information will be anonymized so that no conclusions can be drawn about the identity of the dog, the owner, the breeder and the country of origin. By signing the submission form, consent is given for the use of the EDTA blood sample for scientific purposes. The test results or DNA will only be passed on to third parties if there is an order from the owner of the dog. You can agree to a transfer of the test results to the DTK if you check the corresponding box on the submission form and confirm it with your signature.
The confirmation of receipt of the sample together with the results of the genetic test for brittle bone disease will be sent to you by mail or email after about 2-4 weeks. The result can be "free", "carrier" or "trait carrier".

Explanation: Each animal has two sets of chromosomes and therefore each gene is also present in two forms of expression. The only exception to this is the sex chromosomes in the male animal. The animal receives one set of chromosomes from the father and the other set of chromosomes from the mother. In the case of mutations, however, the expression of one or more components of the genetic material (DNA) can be different. These forms of expression are called alleles. If the expression of both alleles is identical, the individual is homozygous. If different alleles are present, the individual is heterozygous for these alleles. An animal "free" for brittle bone disease carries the healthy hereditary traits homozygously, an "investment carrier" has both a healthy and a mutated hereditary trait, and a "trait carrier" carries the mutated hereditary trait on both chromosomes, i.e. is homozygous for the brittle bone disease mutation.