Macrothrombocytopenia (Cairn/Norfolk Terrier Type)

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Tubulin beta 1 class VI (TUBB1) on Chromosome 24

Variant Detected:

Base Substitution c.5G>A p.Arg2His

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gelain, ME. A novel point mutation in the ?1?tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers (2014) Vet Clin Path 43(3);317-321.

Associated Breed(s):

Cairn Terrier, Mixed Breed, Norfolk Terrier , Norwich Terrier,