Mouse Genome Informatics
cx
    Gata1tm1Mym/Y
Tg(Gata1*V205G)1Mym/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
       
growth/size/body
• E15.5 fetuses are sometimes small in size (J:89054)

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 (J:89054)
• peripheral erythrocytes are morphologically abnormal (J:89054)
• in fetuses, circulation of nucleated erythroid cells is often observed whereas in wild-type mice, erythrocytes are uniformly enucleated (J:89054)
• enucleated erythroid cells are rarely seen in the fetal liver (J:89054)
(J:89054)
• mutants exhibit an increased number of large mononuclear cells in the bone marrow (J:89054)
• megakaryopoiesis is severerly affected (J:89054)
• 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 (J:89054)
• megakaryocytes are larger in mutant fetuses than in wild-type (J:89054)
• megakaryocytes in the spleen are larger than in wild-type spleen (J:89054)
• megakaryocytes contain a large volume of cytoplasm with a paucity of cytoplasmic organelles (J:89054)
• demarcation membrane is underdeveloped in megakaryocytes (J:89054)
• impaired megakaryocyte differentiation (J:89054)
• mutants exhibit dysregulated proliferation and impaired cytoplasmic maturation of megakaryocytes in adulthood (J:89054)
• proplatelet formation is impaired in the bone marrow cells of mutants (J:89054)
• gross morphologic abnormalities of platelets are seen (J:89054)
• mutants exhibit severe thrombocytopenia without anemia (J:89054)
• number of megakaryocytes is increased in E17.5 mutant livers and in hematopoietic tissues of adults (J:89054)

immune system
• mutants exhibit an increased number of large mononuclear cells in the bone marrow (J:89054)

integument
• E15.5 fetuses appear pale (J:89054)

cellular
• impaired megakaryocyte differentiation (J:89054)
• mutants exhibit dysregulated proliferation and impaired cytoplasmic maturation of megakaryocytes in adulthood (J:89054)

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