Congenital Macrothrombocytopenia

Gene involved
MYH9

Mutation tested
c.5521G>A

Transmission mode : Autosomal dominant

Publication : Flatland et al. (2011). May-Hegglin anomaly in a dog.

Concerned breeds :

Gene involved
TUBB1

Mutation tested
c.745G>A

Transmission mode : Autosomal dominant

Publication : Davis et al. (2008). Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels.

Gene involved
TUBB1

Mutation tested
c.5G>A

Transmission mode : Autosomal recessive

Publication : Gelain et al. (2014). A novel point mutation in the ß1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers.