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Allele Symbol Allele Name Allele ID |
Tg(JAK2*V617F)FF1Rsko transgene insertion FF1, Radek C Skoda MGI:5553468 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in the total colony formation of megakaryocyte (CFU-MK) progenitor cells
• however, mice show a normal occlusion response following FeCl3 injury, indicating normal thrombus formation, and normal bleeding times
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
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• bones are pale at 20 weeks of age, suggesting decreased erythropoiesis
• erythroid TER-119+ cells are reduced in the bone marrow but a compensatory increase is seen in the spleen at 20 weeks of age
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• myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen at 20 weeks of age
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• liver shows extramedullary hematopoiesis at 20 weeks of age with highly atypical megakaryocytes, but islands with myelopoeisis and erythropoiesis are also seen
• colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
• hematopoietic cells, including megakaryocytes are seen in the lung at 20 weeks of age
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• bone marrow shows hypercellularity with trilineage hyperplasia at 20 weeks of age
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• increase in numbers of megakaryocytes in the spleen and bone marrow at 20 weeks of age, most with morphological abnormalities such as hyperchromatic, hyperlobulated nuclei, and bizarre nuclear configuration, and often forming clusters
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• colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
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• collagen-based culture indicates a small increase in CFU-MK in bone marrow and a massive expansion of CFU-MK in the spleen
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• slight decrease in hemoglobin at 20 weeks of age but is normal at 10 weeks of age
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• slight increase in neutrophils at 10 and 20 weeks of age
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• thrombocytosis is seen at 10 weeks of age, with a massive increase in platelets at 20 weeks of age
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• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
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• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
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• destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen at 20 weeks of age
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• seen at 20 weeks of age
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• myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen at 20 weeks of age
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• slight increase in neutrophils at 10 and 20 weeks of age
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• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
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• the relative amount of B and T cells in the spleen and bone marrow is reduced at 20 weeks of age
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• destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen at 20 weeks of age
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• seen at 20 weeks of age
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• dilated sinusoids with intrasinusoidal hematopoiesis are seen in the bone marrow at 20 weeks of age
• myeloid cells are the predominant cell population in the bone marrow
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• presence of myelofibrosis at 20 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| essential thrombocythemia | DOID:2224 |
OMIM:187950 OMIM:601977 OMIM:614521 |
J:134364 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• at 20 weeks after pIpC induction, myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen
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• 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
|
|
• at 20 weeks after pIpC induction, bone marrow shows hypercellularity with trilineage hyperplasia
|
|
• 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
|
|
• at 20 weeks after pIpC induction, colony assays of progenitors show extramedullary hematopoiesis with markedly increased erythroid and myeloid progenitor numbers in spleen
|
|
• at 20 weeks after pIpC induction, collagen-based culture indicates a massive expansion of CFU-MK in the spleen
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• at 10 weeks after pIpC induction, mutants exhibit an increase in erythrocyte numbers
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• at 10 weeks after pIpC induction, mutants exhibit elevated hemoglobin
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• at 10 weeks after pIpC induction, mutants exhibit a slight decrease in mean corpuscular volume
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• at 10 weeks after pIpC induction, mutants exhibit neutrophilia
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• at 10 weeks after pIpC induction, mutants exhibit thrombocytosis
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• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced
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• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced
|
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• at 20 weeks after pIpC induction, destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen
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• splenomegaly is seen after pIpC induction
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• spleen fibrosis is seen at 20 weeks after pIpC induction
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• at 20 weeks after pIpC induction, myeloid cells are the predominant cell population in the bone marrow and are increased in the spleen
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• at 10 weeks after pIpC induction, mutants exhibit neutrophilia
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• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced
|
|
• at 20 weeks after pIpC induction, the relative amount of B and T cells in the spleen and bone marrow is reduced
|
|
• at 20 weeks after pIpC induction, destruction of normal splenic architecture by atypical hematopoiesis is seen in some sections of the spleen
|
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• splenomegaly is seen after pIpC induction
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• spleen fibrosis is seen at 20 weeks after pIpC induction
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• bone marrow fibrosis is seen at 20 weeks after pIpC induction
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• splenomegaly is seen after pIpC induction
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| polycythemia vera | DOID:8997 |
OMIM:263300 |
J:134364 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice develop splenomegaly by 16 weeks of age
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• mice develop splenomegaly by 16 weeks of age
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• increase in total colony formation, particularly in the number of granulocyte/macrophage (CFU-GM) progenitor cells
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• decrease in bone marrow erythropoiesis and an increase in splenic erythropoiesis
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• CD41/CD61-positive megakaryocytes are increased in the bone marrow and spleen
• greatly increased magakaryopoiesis at 16 weeks of age
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• increase in total colony formation, particularly in the number of megakaryocyte (CFU-MK) progenitor cells
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• mice show increased red-cell distribution width without differences in mean cell volume at 22 weeks of age, indicating premyelofibrosis
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• neutrophilia is seen at 8 weeks of age which gets worse by 16 weeks of age
• however no differences in red blood cell or total lymphocyte count is seen
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• thrombocytosis is seen at 8 weeks of age which gets worse by 16 weeks of age
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• reduction in the number of CD3-positive T cells in the bone marrow and spleen
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• blood fails to agglutinate in the presence of ristocetin compared to wild-type
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• plasma levels of von Willebrand Factor (VWF) are normal, however distribution of VWF multimers is different, with mice showing a reduction in ultralarge multimers and a compensatory increase in the levels of smaller VWF multimers
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• blood aggregates quicker and to a greater extent in response to a combination of epinephrine and ADP or collagen than whole blood from wild-type mice, however this is due to increased platelet numbers and not due to increased aggregation and platelets appear to have normal function
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• blood fails to agglutinate in the presence of ristocetin compared to wild-type
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• mice fail to occlude in response to FeCl3 injury over a 30 minute period indicating severely attenuated thrombosis following injury; while platelets adhere to injury site, the platelet plug appears to fail to propagate into an occlusive thrombus
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• increase in bleeding time following injury to the tail compared to wild-type mice
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• mice develop splenomegaly by 16 weeks of age
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• neutrophilia is seen at 8 weeks of age which gets worse by 16 weeks of age
• however no differences in red blood cell or total lymphocyte count is seen
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• reduction in the number of CD3-positive T cells in the bone marrow and spleen
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• predominant cell type in the bone marrow is GR1/Mac-1-positive myeloid cells
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• mice develop extensive bone marrow osteopetrosis by 32 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| blood coagulation disease | DOID:1247 | J:206659 | ||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 07/05/2024 MGI 6.24 |
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