title: Is the osteopetrotic (op/op mutant) mouse completely deficient in expression of macrophage colony-stimulating factor?
abstract: The op/op mouse has a mutation in the macrophage colony-stimulating (CSF-1) gene. The phenotype of gross deficiency in the macrophage and osteoclast lineages corrects significantly with age, suggesting that other factors can substitute for CSF-1. This review examines the evidence that the op/op mouse is completely CSF-1 deficient and considers the possibility that alternative splicing within the CSF-1 gene might bypass the mutation, yielding an incompletely penetrant phenotype.
authors.affiliation: Centre for Molecular and Cellular Biology, University of Queensland, Australia.
authors.forename: D A
authors.initials: DA
authors.lastname: Hume
authors.forename: P
authors.initials: P
authors.lastname: Favot
mesh_terms: D000375:Aging / Q000235:genetics; D000818:Animals; D002454:Cell Differentiation / Q000235:genetics; D002455:Cell Division / Q000235:genetics; D005786:Gene Expression Regulation / Q000502:physiology*; D006801:Humans; D016173:Macrophage Colony-Stimulating Factor / Q000172:deficiency / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D010022:Osteopetrosis / Q000235:genetics*; D010641:Phenotype
chemical_list: D016173:Macrophage Colony-Stimulating Factor