Phenotypes Associated with This Genotype

Genotype
MGI:5439657

• Allelic Composition: Bap1^tm1.1Geno/Bap1^tm1.1Geno; Gt(ROSA)26Sor^{tm9(cre/ESR1)Arte}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: C57BL/6 * C57BL/6NTac

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

neoplasm

increased leukemia incidence ( J:187380 )

• changes in leukocyte numbers are consistent with a chronic myelomonocytic leukemia (CMML)-like disease

• transplantation of bone marrow cells into lethally irradiated congenic wild-type mice followed by tamoxifen treatment also results in a CMML-like disease

hematopoietic system

enlarged spleen ( J:187380 )

• seen in all mice 4 weeks after the last tamoxifen injection

abnormal myelopoiesis ( J:187380 )

• at 4 weeks after the last tamoxifen injection peripheral blood shows cytological features consistent with myelodysplasia

• increase in the number of lineage-negative ScaI? c-Kit+ myeloid progenitor cells in the spleen and bone marrow as early as 2 weeks after the last tamoxifen treatment

• atypical immature cells with myelomonocytic features detected after tamoxifen treatment

myeloid hyperplasia ( J:187380 )

• expansion of the myeloid lineage in the spleen, lymph nodes and bone marrow at 4 weeks after the last tamoxifen injection

extramedullary hematopoiesis ( J:187380 )

• 4 weeks after the last tamoxifen injection

anemia ( J:187380 )

• develop severe progressive anemia after tamoxifen treatment

abnormal erythrocyte morphology ( J:187380 )

• signs of erythroid dysplasia after tamoxifen treatment

• prominent basophilic stippling after tamoxifen treatment

abnormal erythropoiesis ( J:187380 )

• at 4 weeks after the last tamoxifen injection peripheral blood shows cytological features consistent with ineffective erythropoiesis

increased nucleated erythrocyte cell number ( J:187380 )

• after tamoxifen treatment

anisopoikilocytosis ( J:187380 )

• after tamoxifen treatment

abnormal granulocyte morphology ( J:187380 )

• bilobed granulocytes after tamoxifen treatment

abnormal neutrophil morphology ( J:187380 )

• hypersegmented and hyposegmented neutrophils after tamoxifen treatment

increased neutrophil cell number ( J:187380 )

• 4 weeks after the last tamoxifen injection

thrombocytopenia ( J:187380 )

• detected as early as 1 week after the last tamoxifen treatment

giant platelets ( J:187380 )

• giant platelets detected after tamoxifen treatment

increased leukocyte cell number ( J:187380 )

• elevated total leukocyte numbers at 4 weeks after the last tamoxifen injection

increased monocyte cell number ( J:187380 )

• 4 weeks after the last tamoxifen injection

increased hematopoietic stem cell number ( J:187380 )

• in the spleen and bone marrow as early as 2 weeks after the last tamoxifen treatment

abnormal bone marrow cell physiology ( J:187380 )

• cells taken from tamoxifen treated mice fail to reconstitute the bone marrow of lethally irradiated congenic wild-type mice

abnormal hematopoietic stem cell physiology ( J:187380 )

• cultured cells collected 1 month after the last tamoxifen treatment produce fewer colonies and replated cells do not produce well formed colonies

immune system

heart inflammation ( J:187380 )

• neutrophilic inflammation and infiltration of myeloblastic cells after tamoxifen treatment

enlarged spleen ( J:187380 )

• seen in all mice 4 weeks after the last tamoxifen injection

abnormal myelopoiesis ( J:187380 )

• at 4 weeks after the last tamoxifen injection peripheral blood shows cytological features consistent with myelodysplasia

• increase in the number of lineage-negative ScaI? c-Kit+ myeloid progenitor cells in the spleen and bone marrow as early as 2 weeks after the last tamoxifen treatment

• atypical immature cells with myelomonocytic features detected after tamoxifen treatment

myeloid hyperplasia ( J:187380 )

• expansion of the myeloid lineage in the spleen, lymph nodes and bone marrow at 4 weeks after the last tamoxifen injection

abnormal granulocyte morphology ( J:187380 )

• bilobed granulocytes after tamoxifen treatment

abnormal neutrophil morphology ( J:187380 )

• hypersegmented and hyposegmented neutrophils after tamoxifen treatment

increased neutrophil cell number ( J:187380 )

• 4 weeks after the last tamoxifen injection

increased leukocyte cell number ( J:187380 )

• elevated total leukocyte numbers at 4 weeks after the last tamoxifen injection

increased monocyte cell number ( J:187380 )

• 4 weeks after the last tamoxifen injection

homeostasis/metabolism

abnormal cardiac thrombosis ( J:187380 )

• microthrombi in the heart after tamoxifen treatment

muscle

cardiac muscle necrosis ( J:187380 )

• multifocal necrosis after tamoxifen treatment

cardiovascular system

cardiac muscle necrosis ( J:187380 )

• multifocal necrosis after tamoxifen treatment

heart inflammation ( J:187380 )

• neutrophilic inflammation and infiltration of myeloblastic cells after tamoxifen treatment

growth/size/body

enlarged spleen ( J:187380 )

• seen in all mice 4 weeks after the last tamoxifen injection

cellular

cardiac muscle necrosis ( J:187380 )

• multifocal necrosis after tamoxifen treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:187380