| description |
The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm (MPN) including polycytheamia vera (PV), essential thrombocytheamia (ET) and idiopathic myelofibrosis (IMF). It is unclear how a single point mutation in JAK2 is associated with different diseases. We therefore generated a conditional knock-in mouse in which a human JAK2 V617F is expressed under the control of the mouse Jak2 locus and mice developed modest increases in hemoglobin and platelet levels reminiscent of human JAK2 V617F-positive ET. Approximately 10% of the mice developed PV-like or fibrotic phenotypes that are usually associated with enlarged spleen. In this study, we will sequence the exome of these transformed mice to reveal the genetic alterations involved in the disease progression. |