Mouse Genome Informatics
cx
    Gata1tm1Mym/Y
Tg(Gata1*V205G)1Mym/0

involves: C57BL/6 * DBA/2
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• E15.5 fetuses are sometimes small in size

hematopoietic system
• mutants require longer time (11 days versus 7 days for wild-type mice) to recover from PHZ-induced anemia, indicating attenuated stress erythropoiesis
• peripheral erythrocytes are morphologically abnormal
• in fetuses, circulation of nucleated erythroid cells is often observed whereas in wild-type mice, erythrocytes are uniformly enucleated
• enucleated erythroid cells are rarely seen in the fetal liver
• mutants exhibit an increased number of large mononuclear cells in the bone marrow
• megakaryopoiesis is severerly affected
• analysis of in vitro colony formation from mononuclear ells indicates that hematopoietic progenitor formation is normal, however AChE+ cells of CFU-Megs are larger indicating dysregulation of megakaryopoiesis
• megakaryocytes are larger in mutant fetuses than in wild-type
• megakaryocytes in the spleen are larger than in wild-type spleen
• megakaryocytes contain a large volume of cytoplasm with a paucity of cytoplasmic organelles
• demarcation membrane is underdeveloped in megakaryocytes
• impaired megakaryocyte differentiation
• mutants exhibit dysregulated proliferation and impaired cytoplasmic maturation of megakaryocytes in adulthood
• proplatelet formation is impaired in the bone marrow cells of mutants
• gross morphologic abnormalities of platelets are seen
• mutants exhibit severe thrombocytopenia without anemia
• number of megakaryocytes is increased in E17.5 mutant livers and in hematopoietic tissues of adults

immune system
• mutants exhibit an increased number of large mononuclear cells in the bone marrow

integument
• E15.5 fetuses appear pale

cellular
• impaired megakaryocyte differentiation
• mutants exhibit dysregulated proliferation and impaired cytoplasmic maturation of megakaryocytes in adulthood

Mouse Models of Human Disease
OMIM IDRef(s)
Thrombocytopenia 1; THC1 313900 J:89054