This study investigates the impact of a gain-of-function mutation in filamin A (FLNA) on platelet function and thrombus stability. Using a conditional Knockin mouse model expressing a mutant FLNA specifically in megakaryocytes and platelets, researchers observed enhanced platelet aggregation and activation. However, in vivo experiments revealed increased thrombus instability, characterized by frequent embolization, suggesting that the mutation leads to hyperactive but unstable thrombi.
The gain-of-function FLNA mutation enhances platelet activation and aggregation but compromises thrombus stability in vivo, leading to increased embolization. This highlights the critical role of FLNA in maintaining thrombus integrity and suggests that certain FLNA mutations may predispose individuals to thrombotic disorders.
Flna conditional Knockin mouse model developed by genOway, featuring a loxP-flanked wild-type exon 45 of the Flna gene replaced by a mutant exon 45 harboring a human C-terminal frameshift mutation. The mutation is specifically expressed in the megakaryocyte/platelet lineage using the PF4-Cre system.
Thrombosis, Platelet function, Filamin A, Hemostasis, Thrombus stability
Conditional Knockin model, PF4-Cre driver, LoxP-flanked exon replacement, Humanized mutation, Megakaryocyte-specific expression
From model design to experimental results
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