hematopoietic system
|
• 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
|
|
• 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
|
|
• erythroid hyperplasia in the spleen and bone marrow
|
microcytosis
(
J:135993
)
|
• mutants exhibit many smaller red blood cells
|
|
• mutants exhibit increased number of platelets with the occasional presence of giant platelets
|
|
• mutants exhibit an increase in the number of megakaryocytic progenitor cells in the bone marrow
|
|
• megakaryocytic hyperplasia in the spleen and bone marrow
|
|
• spleens weigh 2-8 times more than those of controls
|
|
• 10 of 26 mutants develop various degrees of fibrosis in the bone marrow and spleen
|
homeostasis/metabolism
|
• plasma thyroid peroxidase levels are decreased
|
immune system
|
• spleens weigh 2-8 times more than those of controls
|
|
• 10 of 26 mutants develop various degrees of fibrosis in the bone marrow and spleen
|
skeleton
|
• 10 of 26 mutants develop various degrees of fibrosis in the bone marrow and spleen
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Myelofibrosis | 254450 | J:135993 | |
| Polycythemia Vera | 263300 | J:135993 | |
| Thrombocythemia 3; THCYT3 | 614521 | J:135993 | |
