Exome_sequencing_of_the_polycytheamia_vera__PV__like_or_bone_marrow_fibrotic_transformation_mice-sc-2011-01-12
Exome_sequencing_of_the_polycytheamia_vera__PV__like_or_bone_marrow_fibrotic_transformation_mice
Exome sequencing of the polycytheamia vera (PV)-like or bone marrow fibrotic transformation mice. We have established a conditional JAK2 V617F mouse line that develops essential thrombocytheamia with approximately 10% PV-like or bone marrow fibrotic transformation. In this experiment we will sequence the exome of these mice in an attempt to identify the mutations associated with the disease progression.. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/
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.