Breeds Affected: Curly Coated Retriever
Samples Accepted: Blood, Buccal Swabs
Disease Information: GSD III results in an accumulation of glycogen in the body, particularly in the liver and muscles. Symptoms including lethargy, exercise intolerance and collapse are usually apparent by 14 months of age.
Inheritance Information: GSD III is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/gsd3 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/gsd3 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
gsd3/gsd3 The dog is affected, and should not be used for breeding.
– Carriers may be bred to normal animals (N/gsd3 x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/gsd3 x N/gsd3) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected dogs (gsd3/gsd3) should not be bred.
Test Information: This mutation test identifies a single base change in the AGL gene.
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC.: Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Further information is available at the Online Mendelian Inheritance in Animals website.