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To model the human disease, we created a disease-associated mutation (pGlu631Lys; E631K) in the mouse Csf1r locus. Homozygous mutation (Csf1rE631K\/E631K) phenocopied the Csf1r knockout, with prenatal mortality or severe postnatal growth retardation and hydrocephalus. Heterozygous mutation delayed the postnatal expansion of tissue macrophage populations in most organs. Bone marrow cells from Csf1rE631K\/+mice were resistant to CSF1 stimulation in vitro, and Csf1rE631K\/+ mice were unresponsive to administration of a CSF1-Fc fusion protein, which expanded tissue macrophage populations in controls. In the brain, microglial cell numbers and dendritic arborisation were reduced in Csf1rE631K\/+ mice, as in patients with ALSP. The microglial phenotype is the opposite of microgliosis observed in Csf1r+\/\u2212 mice. However, we found no evidence of brain pathology or impacts on motor function in aged Csf1rE631K\/+ mice. We conclude that heterozygous disease-associated CSF1R mutations compromise CSF1R signalling. We speculate that leukoencephalopathy associated with dominant human CSF1R mutations requires an environmental trigger and\/or epistatic interaction with common neurodegenerative disease-associated alleles.<\/jats:p>","DOI":"10.1242\/dev.200237","type":"journal-article","created":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T15:10:42Z","timestamp":1648221042000},"source":"Crossref","is-referenced-by-count":37,"title":["A kinase-dead <i>Csf1r<\/i> mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling"],"prefix":"10.1242","volume":"149","author":[{"given":"Jennifer","family":"Stables","sequence":"first","affiliation":[{"name":"Mater Research Institute-University of Queensland, Translational Research Institute, Brisbane, Qld 4102, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma K.","family":"Green","sequence":"additional","affiliation":[{"name":"Centre for Inflammation Research and Simons 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