Mouse Genome Informatics
tg
    Tg(H2-Kb-Jak2*V617F)2Shmd/0
involves: C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hematopoietic system
• increase in number of CD41+ cells and Gr-1/Mac1 double-positive cells in the bone marrow and spleen
• decrease in the number of CD71/TER119 double-positive cells
• decrease in the percentage of B220+ B cells in the bone marrow and spleen
• number of red blood cells is decreased at 1 month of age with the greatest decrease at 9 months of age
• hematocrit is decreased at 1 month of age, with a further decrease at 6 months
• decrease in the percentage of erythroid precursor cells in the bone marrow
• decrease in the percentage of erythroblasts in spleen
• mutants exhibit severe leukocytosis at 1 month of age; leukocyte numbers increase with age, with leukocytosis peaking at 5 months of age and then slightly decreasing afterwards but still remaining higher than in controls
• majority of increased leukocytes are mature neutrophils with some immature cells
• increase in the percentage of neutrophil precursor cells in the bone marrow
• increase in numbers of mature myeloid cells in spleen
• femurs exhibit prominent population of maturing myeloid cells
• megakaryoctyes of many sizes are clustered and show unusual morphology, including aberrant nuclear-to-cytoplasmic ratio, emperipolesis of neutrophils in megakaryocyte cytoplasm, and bulbous or irregularly folded nuclei
• peripheral blood shows giant platelets
• thrombocytosis is seen at 1 months of age, however platelet counts slowly decline with age and return to near-normal levels at 8 months of age
• femurs exhibit prominent population of maturing myeloid cells with a moderate increase in megakaryocyte numbers
• complete effacement of normal splenic architecture, with invasion of non-lymphoid cells
• the red pulp is expanded by an atypical population of maturing myeloid cells and megakaryocytes and few erythroblasts
• splenomegaly is seen at 3-5 months of age
• fibrosis in the spleen, with mild accumulation of fibers at 6 months of age and development of fibrosis by 9 months of age

immune system
• mutants exhibit severe leukocytosis at 1 month of age; leukocyte numbers increase with age, with leukocytosis peaking at 5 months of age and then slightly decreasing afterwards but still remaining higher than in controls
• majority of increased leukocytes are mature neutrophils with some immature cells
• increase in the percentage of neutrophil precursor cells in the bone marrow
• increase in numbers of mature myeloid cells in spleen
• femurs exhibit prominent population of maturing myeloid cells
• complete effacement of normal splenic architecture, with invasion of non-lymphoid cells
• the red pulp is expanded by an atypical population of maturing myeloid cells and megakaryocytes and few erythroblasts
• splenomegaly is seen at 3-5 months of age
• fibrosis in the spleen, with mild accumulation of fibers at 6 months of age and development of fibrosis by 9 months of age

skeleton
• mutants develop fibrosis in the bone marrow with age
• bone cortical thickness is mildly increased, with newly formed bony trabeculae, in 6 month old mice

Mouse Models of Human Disease
OMIM IDRef(s)
Myelofibrosis 254450 J:130189