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Within the last decade, mutations in the <jats:italic>CSF1R<\/jats:italic> have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, OMIM #618476) and adult (CSF1R\u2010related leukoencephalopathy, OMIM #221820) onset. Here we review the genetics, penetrance, and histopathological features of these diseases and discuss to what extent the animal models of <jats:italic>Csf1r<\/jats:italic> deficiency currently available provide systems in which to study the underlying mechanisms involved.<\/jats:p>","DOI":"10.1111\/febs.16085","type":"journal-article","created":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T11:44:48Z","timestamp":1624103088000},"page":"5049-5073","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Modeling CSF\u20101 receptor deficiency diseases \u2013 how close are we?"],"prefix":"10.1111","volume":"289","author":[{"given":"Violeta","family":"Chitu","sequence":"first","affiliation":[{"name":"Department of Developmental and Molecular Biology Albert Einstein College of Medicine  Bronx NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015e\u00f6len","family":"G\u00f6khan","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute for Brain Disorders and Neural Regeneration Albert Einstein College of Medicine  Bronx NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2910-2065","authenticated-orcid":false,"given":"E. 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