Skeletal dysplasia 2 (SD2)

£40.00

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Petagenics works very closely with the UK Kennel Club, and as such, agree to send to the Kennel Club tests results of ALL Kennel Club registered dogs, irrelevant of status (clear, carrier, affected). You (the customer), hereby agree to Petagenics forwarding your dogs test results to the Kennel Club, should you object to your dogs results being included in the results sent to the Kennel Club, then you should indicate here.
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Description

Other Names:
Dwarfism, SD2
Inheritance:
Autosomal Recessive With Incomplete Penetrance
Mutation(s):
G>C
Affected Gene(s):
COL11A2
Affected Breed(s):
Labrador Retriever

Common Symptoms

Skeletal dysplasia 2 is an inherited musculoskeletal disease affecting Labrador Retrievers. Affected dogs develop a mild form of “disproportionate dwarfism” consisting of short legs with normal body length and width. The leg bones are shorter, thicker, and slightly curved and the front legs are frequently more affected than rear legs. Joints and eyes are not typically affected with this disease. The height of affected dogs is variable, making diagnosis based on physical characteristics alone challenging in some individuals. Mildly affected dogs from bloodlines known to produce large dogs may still fall within their breed standard for height. The causal mutation shows incomplete penetrance meaning that not all dogs inheriting two copies (one from each parent) will display obvious physical characteristics of dwarfism.

References

  • Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drogemuller C, Dietschi E, Dolf G, Tellhelm B, Lang J, Tiira K, Lohi H, Leeb T. A COL11A2 mutation in Labrador Retrievers with mild disproportionate dwarfism. PLoS One. 2013;8(3):e60149 [PubMed: 23527306]