Primary Identifier | MGI:97076 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 17480 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable thrombopoietin receptor activity. Involved in thrombopoietin-mediated signaling pathway. Acts upstream of or within several processes, including hemopoiesis; regulation of gene expression; and regulation of stem cell division. Predicted to be located in several cellular components, including Golgi apparatus; neuronal cell body; and nuclear membrane. Predicted to be active in external side of plasma membrane. Is expressed in several structures, including brain; hemolymphoid system; mesenchyme derived from splanchnopleure; spinal cord; and vestibulo-cochlear ganglion. Used to study congenital amegakaryocytic thrombocytopenia. Human ortholog(s) of this gene implicated in essential thrombocythemia; myelofibrosis; thrombocytopenia; and thrombocytosis. Orthologous to human MPL (MPL proto-oncogene, thrombopoietin receptor). PHENOTYPE: Mice homozygous for targeted mutations at this locus are unable to produce normal amounts of megakaryocytes and platelets. [provided by MGI curators] |