Breeds Affected: Rough and Smooth Collie
Samples Accepted: Blood, Buccal Swabs
Disease Information: Canine Cyclical Neutropenia is also known as Grey Collie Syndrome, due to the accompanying coat color dilution. Affected animals have two-week cyclical fluctuations in white blood cell levels, associated with fevers and potentially fatal infections.
Test Information: This mutation test identifies a single base pair change in the AP3B1 gene. Animals which have two copies of this allele are affected with CCN, and animals with one copy are carriers which appear normal.
Benson, K.F., Li, F.Q., Person, R.E., Albani, D., Duan, Z., Wechsler, J., Meade-White, K., Williams, K., Acland, G.M., Niemeyer, G., Lothrop, C.D., Horwitz, M.: Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase Nature Genetics 35:90-6, 2003. Pubmed reference: 12897784. DOI: 10.1038/ng1224.
Further information is available at the Online Mendelian Inheritance in Animals website.