Osteogenesis Imperfecta (Dachshund Type)

Other Names: Brittle bone disease, OI
Affected Genes: SERPINH1
Inheritance: Autosomal Recessive
Mutation: chr21:23033735 (canFam3): T>C

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Common Symptoms

Osteogenesis imperfecta (OI) is an inherited Collagen disorder affecting standard smooth dachshunds. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. OI is caused by a defect is in the way collagen is made. Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly. Other features of the disorder include loose joints and brittle teeth. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

Breed-Specific Information for the Standard Smooth Dachshund

The Mutation of the SERPINH1 gene associated with osteogenesis imperfecta (dachshund type) has been identified in the standard smooth dachshund. Though the exact frequency in the overall standard smooth dachshund population is unknown, 1.1% out of 90 standard smooth dachshunds from 12 European countries were carriers of the mutation.

Testing Tips

Genetic testing of the SERPINH1 gene in standard smooth dachshunds will reliably determine whether a dog is a genetic Carrier of osteogenesis imperfecta (dachshund type). Osteogenesis imperfecta (dachshund type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SERPINH1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Standard smooth dachshunds that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Drögemüller 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. 2009 Jul; 5(7):e1000579. [PubMed: 19629171]
  • Eckardt J, Kluth S, Dierks C, Philipp U, and Distl O. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec. 2013 Apr 6;172(14):364. [PubMed: 23315765]
  • Seeliger F, Leeb T, Peters M, Brugmann M, Fehr M, Hewicker-Trautwein M. Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol. 2003 Sep;40(5):530-9. [PubMed: 12949410]