Collie Cyclic Neutropenia (CN)
Cyclic Hematopoiesis, Gray Collie Syndrome, CH
Collie Cyclic Neutropenia (CN) is characterized by a reduced number of neutrophils which drop dramatically in a cyclical pattern, usually about every 10 to 12 days. During the time of a low neutrophil count, there is an increased susceptibility to infection. Affected dogs develop clinical signs such as fever, diarrhea, joint pain, or other symptoms associated with eye, respiratory, or skin infections. They are also prone to bleeding episodes. This is a serious genetic disorder in which affected puppies are smaller and weaker, with a noticeable pale gray, pinkish/gray, or beige color. These puppies rarely live beyond a couple of days and if they do survive, are susceptible to a number of infections. With proper treatment, they can be kept alive, but few affected dogs tend to live beyond 2 to 3 years of age.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Collie Cyclic Neutropenia nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Collie Cyclic Neutropenia but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation that causes Collie Cyclic Neutropenia which results in a reduced white cell count and increased susceptibility to infection.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
AP3B1
Chromosome
Ch. 1
Mutation
C.2407_2408insA
Publication:
Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet. 2003 Sep;35(1):90-6. [PubMed: 12897784]
