Modeling CSF‐1 receptor deficiency diseases – how close are we?
Open Access
- 19 June 2021
- journal article
- review article
- Published by Wiley in The FEBS Journal
- Vol. 289 (17), 5049-5073
- https://doi.org/10.1111/febs.16085
Abstract
The role of colony-stimulating factor-1 receptor (CSF-1R) in macrophage and organismal development has been extensively studied in mouse. Within the last decade, mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, OMIM #618476) and adult (CSF1R-related 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 Csf1r deficiency currently available provide systems in which to study the underlying mechanisms involved.Keywords
Funding Information
- National Institute of Neurological Disorders and Stroke (P30CA013330, R01NS091519, U54 HD090260)
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