Breeds Affected: American Staffordshire Terrier, Australian Shepherd, Black Russian Terrier, Boerboel, Bulldog, Dalmation, Danish-Swedish Farm dog, German Hunting Terrier, German Shepherd Dog, Giant Schnauzer, Kromfohrländer, Labrador Retriever, Lagotto Romagnolo, Large Munsterlander, Parson (Jack) Russell Terrier, Pomeranian, Spaniel de Pont-Audemer, Swedish Vallhund, Weimaraner
Samples Accepted: Blood, Buccal Swabs
Disease Information: Dogs with Hyperuricosuria and Hyperuricemia (HUU) excrete uric acid in the urine, resulting in urolithiasis, the formation of calculi (stones) in the urinary tract.
Inheritance Information: HUU 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/huu The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/huu carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
huu/huu The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/huu carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/huu 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/huu x N/huu) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (huu/huu) should not be used for breeding.
Test Information: This mutation test identifies a single base change in the SLC2A9 gene. All Dalmatians are homozygous for this trait (affected).
Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H.: Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV.: Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.
Further information is available at the Online Mendelian Inheritance in Animals website.