Primary Identifier | MGI:1339759 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 12983 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable coreceptor activity and cytokine receptor activity. Acts upstream of or within cytokine-mediated signaling pathway and regulation of cell growth. Predicted to be located in membrane. Predicted to be part of granulocyte macrophage colony-stimulating factor receptor complex. Predicted to be active in external side of plasma membrane. Is expressed in several structures, including bone marrow; cardiovascular system mesenchyme; genitourinary system; trunk; and yolk sac. Used to study pulmonary alveolar proteinosis. Human ortholog(s) of this gene implicated in pulmonary alveolar proteinosis. Orthologous to human CSF2RB (colony stimulating factor 2 receptor subunit beta). PHENOTYPE: Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers. [provided by MGI curators] |