A Genetic Mutation on Murine Chromosome 7 Causes Thrombocytosis Associated with Thrombopoietin Excess - A Model of Jak2V617F Negative Idiopathic Thrombocytosis.

Abstract

Abstract A substantial proportion of patients with Essential Thrombocythemia (ET) have evidence of an acquired Jak2V617F mutation that causes the myeloproliferative phenotype. Jak2V617F negative ET patients presumably have mutations in other related pathways or alternatively may have chronic thrombocytosis secondary to factors extrinsic to the hemopoietic system. This second hypothesis is supported by clonality studies that demonstrate at least 30% of women with ET have evidence of polyclonal granulocytes. As part of an ENU mutation screen to identify novel genes associated with thrombocytosis, we have studied a mutant mouse strain, called plt2, with autosomal recessive thromb..