Importantly, the thrombocytopenia-associated Mastl knockin E166D mutation has been shown to deregulate actin cytoskeletal dynamics during platelet activation, while both Mastl-deficient (Δ/Δ) and E166D-mutant (ED/ED) platelets showed a defect in the generation of actin fibers and lamellipodia after stimulation with fibrinogen [30]. The gene discussed is MASTL; the disease is Thrombocytopenia.