VetGen - The leader in veterinary genetic disease research and genetic disease detection services for purebred animals

Breeds Serviced

  • Clumber Spaniel
  • Sussex Spaniel

PDP1-Pyruvate Dehydrogenase Phosphatase Deficiency

The mutation in the gene causing canine pyruvate dehydrogenase phosphatase (PDP1) deficiency in Clumber and Sussex Spaniel dogs was identified by Cameron, J.M., et al (2007). The authors reported that 20% of the current Clumber and Sussex Spaniel population are carriers for a null mutation in PDP1. The disease is characterized by exercise intolerance and post-exercised collapse.

PDP1 is inherited in an autosomal recesive mode therefore, in order to be affected, the animal must inherit two copies of the gene, one from each parent. Dogs without any copies of the diseased gene or carriers with one copy of the PDP1 deficiency form of the gene will be clinically normal but the carrier will pass the affected gene to approximately half the offspring.

Cameron, J .M., Maj, M.C., Levandovskiy, V.L., MacKay, N., Shelton, G.D., and Robinson, B.H. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. (2007) Mol. Genet. Metabol. 90, 15-23.