Osteogenesis Imperfecta (OI) in Dachshunds

Quick Summary

Osteogenesis imperfecta is an inherited disease which causes defective collagen, leading to extremely fragile bones and teeth.

Phenotype: Osteogenesis imperfecta is an inherited disease which causes defective collagen, leading to extremely fragile bones and teeth. Affected puppies suffer from bone fractures after minor trauma which can result from playing. The teeth are fragile and pink due to thin enamel which exposes the underlying blood vessels.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, OI = Osteogenesis imperfecta

Breeds appropriate for testing: Dachshund

Explanation of Results:

  • Dogs with N/N genotype will not have osteogenesis imperfecta and cannot transmit this variant to their offspring.
  • Dogs with N/OI genotype will not have osteogenesis imperfecta, but are carriers. They will transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% osteogenesis imperfecta-affected puppies.
  • Dogs with OI/OI genotype will have osteogenesis imperfecta, an inherited disease that leads to fragile bones and teeth. 
Price

$50 one test per animal
$30 as additional test (same animal)
$45 for 3 or more dogs

Additional Details

Osteogenesis imperfecta is an inherited disease which causes defective collagen, leading to extremely fragile bones and teeth. In Dachshunds the disease is caused by a mutation in SERPINH1, a gene that promotes correct folding of the collagen I triple helix. Affected puppies suffer from bone fractures after minor trauma which can result from playing. The teeth are fragile and pink due to thin enamel which exposes the underlying blood vessels. The disease is seen at the highest rate in wire-hair coated Dachshunds. The trait is inherited as an autosomal recessive, thus breeding stock are unaffected but can be carriers.

 

Note: This test is specific for the mutation in the SERPINH1 gene which causes OI in Dachshunds.
Turnaround Time
5-10 business days

Species

Dog

Breed

Type of Test

Results Reported As
Test Result Osteogenesis Imperfecta
N/N Normal. Dog does not have the OI mutation.
N/OI

Carrier. Dog has 1 copy of the OI mutation. If carriers are bred together, 25% of offspring are expected to be affected.

OI/OI Affected. Dog has 2 copies of OI mutation.
References

Drögemüller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M.J., Baumann, U., Lindblad-Toh, K., & Leeb, T. (2009). A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta. PLoS Genetics, 5(7): e1000579. doi: 10.1371/journal.pgen.1000579