Phenotypes Associated with This Genotype

Genotype
MGI:5553472

• Allelic Composition: Tg(JAK2*V617F)FF1Rsko/0; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: C57BL/6 * CBA

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

hematopoietic system

abnormal erythropoiesis ( J:134364 )

• at 20 weeks after pIpC induction, bones are pale, suggesting decreased erythropoiesis

• at 20 weeks after pIpC induction, erythroid TER-119+ cells are reduced in the bone marrow but a compensatory increase is seen in the spleen

abnormal myelopoiesis ( J:134364 )

• at 20 weeks after pIpC induction, myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen

extramedullary hematopoiesis ( J:134364 )

• at 20 weeks after pIpC induction, liver shows extramedullary hematopoiesis with highly atypical megakaryocytes, but islands with myelopoeisis and erythropoiesis can also be found

• at 20 weeks after pIpC induction, hematopoietic cells, including megakaryocytes are seen in the lung

• at 20 weeks after pIpC induction, colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen

increased bone marrow cell number ( J:134364 )

• at 20 weeks after pIpC induction, bone marrow shows hypercellularity with trilineage hyperplasia

increased megakaryocyte cell number ( J:134364 )

• at 20 weeks after pIpC induction, an increase in numbers of megakaryocytes in the spleen and bone marrow is seen at 20 weeks of age, most with morphological abnormalities such as hyperchromatic, hyperlobulated nuclei, and bizarre nuclear configuration, and often forming clusters

increased erythroid progenitor cell number ( J:134364 )

• at 20 weeks after pIpC induction, colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen

abnormal megakaryocyte progenitor cell morphology ( J:134364 )

• at 20 weeks after pIpC induction, collagen-based culture indicates a massive expansion of CFU-MK in the spleen

increased erythrocyte cell number ( J:134364 )

• at 10 weeks after pIpC induction, mutants exhibit an increase in erythrocyte numbers

increased hemoglobin content ( J:134364 )

• at 10 weeks after pIpC induction, mutants exhibit elevated hemoglobin

decreased mean corpuscular volume ( J:134364 )

• at 10 weeks after pIpC induction, mutants exhibit a slight decrease in mean corpuscular volume

increased neutrophil cell number ( J:134364 )

• at 10 weeks after pIpC induction, mutants exhibit neutrophilia

thrombocytosis ( J:134364 )

• at 10 weeks after pIpC induction, mutants exhibit thrombocytosis

decreased B cell number ( J:134364 )

• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced

decreased T cell number ( J:134364 )

• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced

abnormal spleen morphology ( J:134364 )

• at 20 weeks after pIpC induction, destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen

enlarged spleen ( J:134364 )

• splenomegaly is seen after pIpC induction

spleen fibrosis ( J:134364 )

• spleen fibrosis is seen at 20 weeks after pIpC induction

immune system

abnormal myelopoiesis ( J:134364 )

• at 20 weeks after pIpC induction, myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen

increased neutrophil cell number ( J:134364 )

• at 10 weeks after pIpC induction, mutants exhibit neutrophilia

decreased B cell number ( J:134364 )

• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced

decreased T cell number ( J:134364 )

• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced

abnormal spleen morphology ( J:134364 )

• at 20 weeks after pIpC induction, destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen

enlarged spleen ( J:134364 )

• splenomegaly is seen after pIpC induction

spleen fibrosis ( J:134364 )

• spleen fibrosis is seen at 20 weeks after pIpC induction

skeleton

myelofibrosis ( J:134364 )

• bone marrow fibrosis is seen at 20 weeks after pIpC induction

growth/size/body

enlarged spleen ( J:134364 )

• splenomegaly is seen after pIpC induction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycythemia vera		DOID:8997	OMIM:263300	J:134364