The Genetics Behind OSD 1.0.0

Oculoskeletal dysplasia

• Canine genetics research at the Animal Health Trust
• Basic genetics
• Finding disease mutations
• Genetics of OSD – Part 1 –
        Identifying the causal mutation
• Genetics of OSD – Part 2 –
       Implications for the breed
• Summary and Breeding Advice
• Acknowledgements
• OSD3 DNA Test

Breeds information/impacts...

- the drd1 mutation in the gene COL9A3 in the Labrador retriever
- the drd2 mutation in the gene COL9A2 in the Samoyed - autosomal recessive mode of inheritance of the complete phenotype

• Clinical findings in the Labrador retriever & in the Samoyed
  (Carrig et al. 1988 & Goldstein et al. 2010)
- disproportionate dwarfism
- corneal opacities, cataracts, persistent hyaloid artery remnants, vitreal dysplasia, alterations in optic nerve head colour + size, retinal dysplasia retinal detachment
• Recently observed in 7 Northern Inuit Dogs (NID)