Phenotypes Associated with This Genotype

Genotype
MGI:5441312

• Allelic Composition: Tg(Vav1-JAK2*V617F)AZjz/0
• Genetic Background: involves: C57BL/6 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hematopoietic system

enlarged spleen ( J:135993 )

increased spleen weight ( J:135993 )

• spleens weigh 2-8 times more than those of controls

abnormal blood cell morphology/development ( J:135993 )

• 75% of mutants exhibit a strong elevation of platelets but with normal or slightly increased counts of white blood and red blood cells, resembling essential thrombocythemia

• 25% of mutants show abnormally high levels of red blood cells and white blood cells as well as platelets, resembling polycythemia vera

abnormal definitive hematopoiesis ( J:135993 )

• bone marrow and spleen give rise to an increase in hematopoietic colonies, indicating the presence of a larger percentage of progenitor cells

• bone marrow cells produce an increased number of granulocyte-macrophage colony-forming cell colonies compared to controls in the absence of growth factors

• mutants exhibit autonomous formation of erythrocyte colony-forming unit colonies with cells from bone marrow

increased megakaryocyte cell number ( J:135993 )

• megakaryocytic hyperplasia in the spleen and bone marrow

abnormal megakaryocyte progenitor cell morphology ( J:135993 )

• mutants exhibit an increase in the number of megakaryocytic progenitor cells in the bone marrow

increased erythrocyte cell number ( J:135993 )

• erythroid hyperplasia in the spleen and bone marrow

increased hematocrit ( J:135993 )

increased hemoglobin content ( J:135993 )

microcytosis ( J:135993 )

• mutants exhibit many smaller red blood cells

thrombocytosis ( J:135993 )

• mutants exhibit increased number of platelets

giant platelets ( J:135993 )

• occasional presence of giant platelets

increased leukocyte cell number ( J:135993 )

increased granulocyte number ( J:135993 )

spleen fibrosis ( J:135993 )

• 10 of 26 mutants develop various degrees of fibrosis in the bone marrow and spleen

homeostasis/metabolism

abnormal blood homeostasis ( J:135993 )

• plasma thyroid peroxidase levels are decreased

decreased circulating erythropoietin level ( J:135993 )

immune system

enlarged spleen ( J:135993 )

increased spleen weight ( J:135993 )

• spleens weigh 2-8 times more than those of controls

increased leukocyte cell number ( J:135993 )

increased granulocyte number ( J:135993 )

spleen fibrosis ( J:135993 )

• 10 of 26 mutants develop various degrees of fibrosis in the bone marrow and spleen

skeleton

myelofibrosis ( J:135993 )

• 10 of 26 mutants develop various degrees of fibrosis in the bone marrow and spleen

growth/size/body

enlarged spleen ( J:135993 )

increased spleen weight ( J:135993 )

• spleens weigh 2-8 times more than those of controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
essential thrombocythemia		DOID:2224	OMIM:187950 OMIM:601977 OMIM:614521	J:135993
myelofibrosis		DOID:4971	OMIM:254450	J:135993
polycythemia vera		DOID:8997	OMIM:263300	J:135993