Quick Summary
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Phenotype: The clinical signs of Addison’s disease can include lethargy, lack of appetite, vomiting, and diarrhea. The average age of puppies affected by this juvenile form of Addison's disease is 5 months. Puppies can have other concurrent diseases including eye problems (corneal edema, conjunctivitis, or uveitis) that may require specialized treatment.
Mode of Inheritance: Autosomal recessive (incomplete penetrance)
Alleles: N = Normal, JADD = Juvenile Addison's disease (JADD)
Breeds appropriate for testing: Nova Scotia Duck Tolling Retriever
Explanation of Results:
- Dogs with N/N genotype are not expected to have this form of juvenile Addison's disease and cannot transmit this JADD variant to their offspring.
- Dogs with N/JADD genotype are not expected to have this form of juvenile Addison's disease, but are carriers. They will transmit this JADD variant to 50% of their offspring. If carriers are bred together or to an affected mate, affected offspring can be produced.
- Dogs with JADD/JADD genotype have a 75% chance of developing Addison's disease by one year of age.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Nova Scotia Duck Tolling Retriever Health Panel
$140 per animal
Sample Collection
Dog DNA tests are carried out using cells brushed from your dog's cheeks and gums. The preferred cytology brushes are sent to you by mail, or you may provide your own brushes. For accepted alternative brushes, click here
We recommend waiting until puppies are at least three weeks old before testing.
Step-By-Step:
- Make sure the dog has not had anything to eat or drink for at least 1 hour prior to collecting sample.
- When swabbing puppies, isolate each puppy from the mother, littermates and any shared toys for 1 hour prior to swabbing. Puppies should not have nursed or eaten for 1 hour prior to collecting sample.
- If collecting samples from more than one dog, make sure to sample one dog at a time and wash your hands before swabbing another dog.
- Label brush sleeve with name or ID of dog to be sampled.
- Open brush sleeve by arrow and remove one brush by its handle.
- Place bristle head between the dog’s gums and cheek and press lightly on the outside of the cheek while rubbing or rotating the brush back and forth for 15 seconds.
- Wave the brush in the air for 20 seconds to air dry.
- Insert brush back into sleeve.
- Repeat steps 5 - 8 for each unused brush in sleeve on a fresh area of cheek and gums. Make sure to use and return all brushes sent by the VGL. In most cases, it will be 3 brushes per dog. If using interdental gum brushes, please note that the VGL requires 4 brushes per dog and only moderate or wide interdental gum brushes are accepted.
- Do not seal brushes in sleeve.
- Place all samples in an envelope and return to the address provided.
ATTENTION:
- Do not collect saliva/drool – the key to obtaining a good sample is getting cheek cells on the swab
- Do not rub swab on the dog’s tongue or teeth – this will result in poor quality sample
- Do not collect a sample from a puppy that has recently nursed – the mother’s genetic material can rub off on the puppy’s mouth and contaminate the sample
Addison’s disease (hypoadrenocorticism) occurs when the adrenal glands stop secreting the natural steroid hormones necessary for the regulation of glucose metabolism, immune function (glucocorticoids), sodium and potassium levels in the blood (mineralocorticoids). Addison’s disease can occur in any breed of dog, and it has an average age of onset of 4 years. Addison’s disease is diagnosed by a veterinarian using a blood test called ACTH stimulation test. The clinical signs of Addison’s disease can include lethargy, lack of appetite, vomiting, and diarrhea.
In the Nova Scotia Duck Tolling Retriever, or Toller, breed, a genetic form of this disease, called Juvenile Addison's Disease (JADD), occurs in much younger animals. The average age of puppies affected with JADD is 5 months; however, puppies as young as 8 weeks and as old as 12 months of age have been identified. Treatment of puppies affected with JADD requires both mineralocorticoid and glucocorticoid replacement therapy. Puppies can have other concurrent diseases including eye problems (corneal edema, conjunctivitis, or uveitis) that may require specialized treatment.
Scientists from the Bannasch Laboratory at the University of California, Davis have developed a DNA test to identify carriers of JADD in the Toller breed. The juvenile form of Addison’s disease is genetically distinguishable from the adult onset form in that all dogs that develop the juvenile form have two identical copies of a specific region within their genome and a specific mutation within a novel gene. The mutation responsible for JADD causes a change in the amino acid sequence in a highly conserved region of this protein. This mutation is not present in any other breeds of dogs based on testing of over 250 individual animals in 80 different breeds.
JADD in Tollers is inherited as an autosomal recessive disease. Affected puppies inherit two copies of the defective gene, one from each of their parents. In addition, JADD is not completely penetrant, meaning that not all puppies with two copies of the mutation will go on to develop the disease. According to researchers, approximately 75% of puppies with two copies of the mutation will develop Addison’s disease. Dogs that are carriers (N/JADD) are normal themselves and can be safely bred to N/N dogs in order to maintain diversity within the breed and select for other positive attributes in carrier dogs.
Breeders can use results from this test as a tool to select mating pairs to avoid producing affected dogs. At the time that the mutation was discovered, about 20% of Tollers were carriers (N/JADD) of JADD.
