Genetics: Hereditary Ataxia in Boykin Spaniels

Boykin Spaniel SLC12A6 Mutation Testing Price: $48.00 per dog, or $38.00 per puppy for two or more puppies of the same litter

The first signs shown by dogs with this neurodegenerative condition are weakness and loss of coordination in the hind limbs.  These signs progress slowly to involve the front legs and tremors of the head develop. Owners note a clear problem with gait within the first 6 months of life, but in retrospect, they comment that as early as 8 weeks, hind limb strength was not normal. 

Our team identified the mutation that is associated with this disease in a gene called SLC12A6. It is a recessive condition, and so dogs that have only 1 copy of the gene do not develop clinical signs. Thus far, to the best of our knowledge, 100% of dogs with 2 copies of the gene have developed clinical signs, but this is a relatively new disease and the number of dogs tested is low. 

Once you run the DNA test we will send you results that state your dog’s results are either:

• Negative – This means that your dog does not have the genetic mutation for Cerebellar Degeneration in Boykin spaniels and cannot pass it on to their puppies. 
• Positive Heterozygous – This means that your dog has 1 copy of the genetic mutation and 1 copy of a normal gene. Since this is a recessive disease dogs with 1 mutation do not develop the clinical signs but is considered a carrier of the trait. If your dog has signs of cerebellar disease, it is likely due to another cause.
  Breeding recommendations: If the dog has many other positive traits it may be reasonable to consider breeding these dogs to a Negative dog, screening the puppies and trying to select a Negative puppy to keep as a replacement breeding animal in the next litter or so. Over time this will gradually reduce the prevalence of the disease in the breed. We do not recommend breeding a positive heterozygous dog to a positive heterozygous dog since this could produce homozygous dogs which will develop this disease.
• Positive Homozygous– This means that your dog has 2 copies of the genetic mutation and can be diagnosed with this disease if it is showing signs. 

Breeding recommendations: your dog has a 100% chance of passing the mutation on to all of its puppies. We would not recommend using these dogs for breeding purposes if possible.