Phenotypes Associated with This Genotype

Genotype
MGI:5444033

• Allelic Composition: Dcc^{Tg(H2-Kb-Jak2*V617F)1Shmd}/Dcc⁺
• Genetic Background: involves: C57BL/6 * DBA/2

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

hematopoietic system

abnormal definitive hematopoiesis ( J:130189 )

• increase in number of CD41+ cells and Gr-1/Mac1 double-positive cells in the bone marrow and spleen

• decrease in the percentage of B220+ B cells in the bone marrow and spleen

myeloid hyperplasia ( J:130189 )

• increase in numbers of mature myeloid cells in spleen

increased bone marrow cell number ( J:130189 )

• femurs exhibit hypercellular bone marrow with maturing myeloid cells, erythrocytes in many stages of differentiation, and mature megakaryocytes

abnormal megakaryocyte morphology ( J:130189 )

• megakaryocytes in the spleen are large in size and have multilobulated nuclei

increased megakaryocyte cell number ( J:130189 )

• increase in the number of megakaryocytes in the bone marrow

decreased erythroid progenitor cell number ( J:130189 )

• decrease in the percentage of erythroid precursor cells in the bone marrow

increased erythroblast number ( J:130189 )

• increase in the percentage of erythroblasts in spleen

polycythemia ( J:130189 )

• 8 of 43 mutants show polycythemia at 3 months of age

decreased hematocrit ( J:130189 )

abnormal neutrophil morphology ( J:130189 )

• increase in the percentage of neutrophil precursor cells in the bone marrow

thrombocytosis ( J:130189 )

• 15 of 43 mutants exhibit thrombocytosis

increased leukocyte cell number ( J:130189 )

• 15 of 43 mutants exhibit leukocytosis, with a predominance of granulocytes

• 2 of 8 mutants with polycythemia and 9 of 15 mutants with thromobocytosis exhibit leukocytosis

increased granulocyte number ( J:130189 )

• granulocytosis after 4 months of age

abnormal spleen morphology ( J:130189 )

• architecture of spleen is barely preserved

enlarged spleen ( J:130189 )

• splenomegaly is seen at 3-5 months of age in some mutants

• mutants with splenomegaly show at least one of the following: erythrocytosis, thrombocytosis, or leukocytosis

increased spleen weight ( J:130189 )

increased spleen red pulp amount ( J:130189 )

• red pulp is expanded due to invasion by non-lymphoid cells, megakaryocytes, erythroblasts, and maturing myeloid cells

decreased spleen white pulp amount ( J:130189 )

enhanced megakaryocyte emperipolesis ( J:130189 )

• emperipolesis of neutrophils in megakaryocyte cytoplasm is seen in the femurs; this is rarely observed in wild-type mice

immune system

myeloid hyperplasia ( J:130189 )

• increase in numbers of mature myeloid cells in spleen

abnormal neutrophil morphology ( J:130189 )

• increase in the percentage of neutrophil precursor cells in the bone marrow

increased leukocyte cell number ( J:130189 )

• 15 of 43 mutants exhibit leukocytosis, with a predominance of granulocytes

• 2 of 8 mutants with polycythemia and 9 of 15 mutants with thromobocytosis exhibit leukocytosis

increased granulocyte number ( J:130189 )

• granulocytosis after 4 months of age

abnormal spleen morphology ( J:130189 )

• architecture of spleen is barely preserved

enlarged spleen ( J:130189 )

• splenomegaly is seen at 3-5 months of age in some mutants

• mutants with splenomegaly show at least one of the following: erythrocytosis, thrombocytosis, or leukocytosis

increased spleen weight ( J:130189 )

increased spleen red pulp amount ( J:130189 )

• red pulp is expanded due to invasion by non-lymphoid cells, megakaryocytes, erythroblasts, and maturing myeloid cells

decreased spleen white pulp amount ( J:130189 )

growth/size/body

enlarged spleen ( J:130189 )

• splenomegaly is seen at 3-5 months of age in some mutants

• mutants with splenomegaly show at least one of the following: erythrocytosis, thrombocytosis, or leukocytosis

increased spleen weight ( J:130189 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
essential thrombocythemia		DOID:2224	OMIM:187950 OMIM:601977 OMIM:614521	J:130189
polycythemia vera		DOID:8997	OMIM:263300	J:130189