The Kennel Club Genetics Centre has an archive of over 40,000 DNA samples that has been collected over decades. This collection, which contains DNA from dogs of nearly two hundred different breeds of dog, has played a central role in all the KCGC’s successful research projects. But it has also contributed to research done by teams of researchers from other institutions.
Recently, Rodrigo Gutierrez-Quintana (University of Glasgow) and Tosso Leeb and Matthias Christen (University of Bern) have been investigating the genetics of a disease called exercise induced paroxysmal movement disorder (PMD) in Weimaraners. The disease affects young Weimaraner puppies (younger than 8 months of age) who present with episodic gait abnormalities characterised by muscle stiffness, arched back and wobbliness. The episodes last 5-15 minutes and are triggered by excitement and/or exercise. In between the episodes the dogs appear normal. The investigations started with the diagnosis of a small number of affected puppies from the UK and have progressed to the identification of the causal genetic defect.
Working with Rodrigo and Tosso, the KCGC has genotyped DNA from 26 UK Weimaraners that we have in our research sample collection and have identified two dogs that are heterozygous (carriers) of the causal disease allele.
The disease is recessive, meaning heterozygous dogs will not be clinically affected but will pass the disease allele (mutation) to half of their offspring. Dogs that inherit a copy of the disease allele from each parent will be affected, assuming the candidate variant is indeed the cause of this disease. The frequency of the disease allele in the 26 dogs is just under 4%; if this is representative of the UK population we expect 1 or 2 dogs a year to be affected (assuming random breeding with respect to the variant).
DNA Test for PMD
These findings have been submitted to a scientific journal for peer-review. Meanwhile a DNA test based on the PMD variant is available from the Canine Genetic Testing service that is based at the University of Cambridge.
For any enquiries about the research please contact us.