Juvenile onset
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Difficulty breathing due to laryngeal paralysis is a severe but very typical clinical sign associated with the disorder in Black Russian Terriers and Rottweilers. Affected puppies develop noticeable problems with inspiration at around 3 months of age. Laryngeal paralysis also causes problems in swallowing, creating a risk for aspiration pneumonia. These puppies may also have evidence of ocular signs such as microphthalmia. The progression of the disease is fast and affected puppies are often euthanized soon after diagnosis on welfare grounds.
Currently, no curative treatment exists for this disease. Treatment is supportive care. The prognosis is poor and euthanasia is often elected on welfare grounds.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the JLPP mutation can be safely bred with a clear dog with no copies of the JLPP mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the JLPP mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the JLPP mutation could develop due to a different genetic or clinical cause.
| Gene | RAB3GAP1 |
|---|---|
| Variant | Deletion |
| Chromosome | 19 |
| Coordinate | 37,908,633 |
All coordinates reference CanFam3.1
Mhlanga-Mutangadura, T., Johnson, G. S., Ashwini, A., Shelton, G. D., Wennogle, S. A., Johnson, G. C., … O’Brien, D. P. (2016). A Homozygous RAB3GAP1: C.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. Journal of Veterinary Internal Medicine, 30(3), 813–818. View the article
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