absent megakaryocytes Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm (Mammalian Phenotype Ontology, MP_0008253)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008253
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Genes

5 gene mutations causing the absent megakaryocytes phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CBFB core-binding factor, beta subunit
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
MED1 mediator complex subunit 1
MEIS1 Meis homeobox 1
MPL MPL proto-oncogene, thrombopoietin receptor