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Grey Collie Syndrome (Cyclic Hematopoiesis) AP3

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Test Overview:

Genetic testing for AP3B1 mutation is available and recommended, especially in Collie breeds (Border Collie, Rough and Smooth Collie, Scottish Collie). Dogs homozygous for the mutation (two copies) should not be bred. Carriers (one copy) can be bred only to clear dogs (no mutation) to prevent producing affected puppies. Avoid mating two carriers due to 25% risk of affected offspring. Testing offspring of carrier matings is advisable to identify additional carriers. Open sharing of genetic information helps responsible breeding and disease control.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Adaptor related protein complex 3 beta 1 subunit (AP3B1) on Chromosome 3

Variant Detected:

Nucleotide Insertion c.2407insA p.Lys802STOP

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the AP3B1 gene will reliably determine if a dog is a genetic carrier of Grey Collie Syndrome (Cyclic Hematopoiesis) AP3.

Research Citation(s):

Benson, KF. et al. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase (2003) Nat Genet, 35(1);90-96

Associated Breed(s):

Collie Rough, Collie Smooth, Mixed Breed,

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