Primary Identifier | MGI:1339754 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 12982 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cytokine receptor activity. Predicted to be involved in cell surface receptor signaling pathway via JAK-STAT; granulocyte-macrophage colony-stimulating factor signaling pathway; and positive regulation of leukocyte proliferation. Predicted to be located in membrane. Predicted to be part of granulocyte macrophage colony-stimulating factor receptor complex. Is expressed in early conceptus; female reproductive system; and liver. Used to study pulmonary alveolar proteinosis. Human ortholog(s) of this gene implicated in pulmonary alveolar proteinosis. Orthologous to human CSF2RA (colony stimulating factor 2 receptor subunit alpha). PHENOTYPE: Mice homozygous for a null allele exhibit pulmonary alveolar proteinosis due to defects in macrophage clearance and abnormal bronchoalveolar fluid containing amorphous debris, peribronciolar lymphocytosis, increased fluid turbidity, and increased cholesterol. [provided by MGI curators] |