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Osteogenesis Imperfecta (Dachshund Type)

Osteogenesis Imperfecta (OI) (Dachshund Type) is an inherited collagen disorder that causes fragile bones and early-life fractures in dogs.

Affected Genes: SERPINH1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr21:22799438: A>G

Breed: Dachshund
Miniature Longhaired Dachshund
Miniature Smooth Dachshund
Miniature Wirehaired Dachshund
Standard Longhaired Dachshund
Standard Smooth Dachshund
Standard Wirehaired Dachshund

General Information: Osteogenesis Imperfecta (OI) (Dachshund Type) is an inherited disorder characterized by a defect in collagen production, leading to significantly weakened skeletal structures in affected dogs. Puppies typically show signs of the disease between 3 to 4 weeks of age, including pain, lameness, and spontaneous fractures due to their thinner and more fragile bones that do not heal properly. Additional symptoms may include loose joints and brittle teeth, reflecting the essential role of collagen in multiple body systems. Due to the severe and debilitating nature of the condition, affected puppies often require euthanasia by the age of 3 months to prevent prolonged suffering.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the SERPINH1 gene can identify carriers of Osteogenesis Imperfecta (OI) (Dachshund Type), which is inherited in an autosomal recessive manner. This means that for a dog to be affected by the disease, it must inherit two copies of the mutated gene, one from each parent. Carrier dogs, which have one copy of the mutation, typically show no symptoms but can produce affected offspring if bred with another carrier. Breeding two carriers results in a 25% chance of each offspring being affected and a 50% chance of being a carrier. To prevent the transmission of this debilitating condition and to manage breeding practices effectively, it is advised not to breed carriers together. Utilizing genetic testing to make informed breeding decisions helps eliminate this mutation from breeding lines, thereby reducing the incidence of the disease in future generations.

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 5(7):e1000579.

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 172(14):364.

Seeliger F, Leeb T, Peters M, Brugmann M, Fehr M, Hewicker-Trautwein M. Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol. 2003 40(5):530-539.