Pdgfrb, encoding the platelet-derived growth factor receptor-beta, is expressed in neurons, vascular smooth muscle cells, and pericytes. It is involved in regulating various biological processes such as vascular development [3,4]. It is also associated with signaling pathways like the JAK-STAT pathway [1].

Mutations in Pdgfrb have been linked to multiple conditions. In intracranial aneurysms, somatic PDGFRB mutations promote smooth muscle cell phenotype modulation, with the JAK-STAT pathway playing a crucial role, and the JAK inhibitor Ruxolitinib can reverse this modulation [1]. PDGFRB mutations are also detectable in a wide range of pericytic tumors, including myopericytomas, angioleiomyomas, glomus tumors, and their combined tumors, but these mutations may not be useful for subclassifying these tumors [2]. In a family with a mild form of primary familial brain calcification, a novel PDGFRB sequence variant was identified, suggesting that PDGFRB mutation carriers generally have a mild clinical phenotype [3]. Upregulation of PDGFRB contributes to damages in the retinal microvascular system in a rat model of retinal ischemia-reperfusion, and its inhibition can alleviate these damages [4].

In conclusion, Pdgfrb is essential for normal biological functions related to cell regulation and vascular development. Studies on Pdgfrb mutations, although not involving KO/CKO mouse models in the provided references, have revealed its role in diseases such as intracranial aneurysms, pericytic tumors, primary familial brain calcification, and retinal ischemia-reperfusion-induced damages, offering potential therapeutic targets for these conditions.