Phenotypes Associated with This Genotype

Genotype
MGI:7261196

• Allelic Composition: Csf2ra^em1Szut/Csf2ra^em1Szut
• Genetic Background: C57BL/6-Csf2ra^em1Szut

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

impaired macrophage phagocytosis ( J:322934 )

• bone marrow-derived macrophages exhibit reduced clearance of granulocyte/macrophage-colony stimulating factor (GM-CSF) and cholesterol clearance from the culture media compared with cells from wild-type mice

increased lymphocyte cell number ( J:322934 )

• peribronchiolar lymphocytosis

abnormal alveolar macrophage morphology ( J:322934 )

• alveolar macrophages are enlarged, foamy-appearing, and intensely oil-red-O staining

lung inflammation ( J:322934 )

• amorphous debris in the bronchoalveolar fluid with peribronchiolar lymphocytosis and increased bronchoalveolar fluid turbidity and cholesterol levels

• however, no pulmonary fibrosis is observed

respiratory system

abnormal alveolar macrophage morphology ( J:322934 )

• alveolar macrophages are enlarged, foamy-appearing, and intensely oil-red-O staining

lung inflammation ( J:322934 )

• amorphous debris in the bronchoalveolar fluid with peribronchiolar lymphocytosis and increased bronchoalveolar fluid turbidity and cholesterol levels

• however, no pulmonary fibrosis is observed

homeostasis/metabolism

increased cholesterol level ( J:322934 )

• in bronchoalveolar fluid

hematopoietic system

impaired macrophage phagocytosis ( J:322934 )

• bone marrow-derived macrophages exhibit reduced clearance of granulocyte/macrophage-colony stimulating factor (GM-CSF) and cholesterol clearance from the culture media compared with cells from wild-type mice

increased lymphocyte cell number ( J:322934 )

• peribronchiolar lymphocytosis

abnormal alveolar macrophage morphology ( J:322934 )

• alveolar macrophages are enlarged, foamy-appearing, and intensely oil-red-O staining

cellular

impaired macrophage phagocytosis ( J:322934 )

• bone marrow-derived macrophages exhibit reduced clearance of granulocyte/macrophage-colony stimulating factor (GM-CSF) and cholesterol clearance from the culture media compared with cells from wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary alveolar proteinosis		DOID:12120	OMIM:265120 OMIM:300770 OMIM:610913 OMIM:610921 OMIM:614370	J:322934