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Phenotypes Associated with This Genotype
Genotype
MGI:5295642
Allelic
Composition
Gata1tm1Mym/Y
Tg(Gata1*V205G)1Mym/0
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1tm1Mym mutation (0 available); any Gata1 mutation (38 available)
Tg(Gata1*V205G)1Mym mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• E15.5 fetuses are sometimes small in size

hematopoietic system
• 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
• number of megakaryocytes is increased in E17.5 mutant livers and in hematopoietic tissues of adults
• 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 require longer time (11 days versus 7 days for wild-type mice) to recover from PHZ-induced anemia, indicating attenuated stress erythropoiesis
• gross morphologic abnormalities of platelets are seen
• proplatelet formation is impaired in the bone marrow cells of mutants
• mutants exhibit severe thrombocytopenia without anemia
• mutants exhibit an increased number of large mononuclear cells in the bone marrow

immune system
• proplatelet formation is impaired in the bone marrow cells of mutants
• 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 ID Ref(s)
Thrombocytopenia 1; THC1 313900 J:89054


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory