UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

OSTEOGENESIS IMPERFECTA (OI) in DACHSHUNDS

Introduction

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.

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Results reported as:

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.

This test is specific for the mutation in the SERPINH1 gene which causes OI in Dachshunds.

Reference:

Drogemuller C, Becker D, Brunner A, et al. A missense mutation in the SERPINH1 gene in Dachshunds with Osteogenesis Imperfecta. PLOS Genetics. 2009; 5(7): e1000579.

 
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