Pdgfrb-KO Mouse

Pdgfrb, encoding the platelet-derived growth factor receptor-beta, is expressed in neurons, vascular smooth muscle cells, and pericytes [4]. It likely plays crucial roles in cell growth, differentiation, and migration, and is involved in multiple cellular pathways, though specific pathways are not elaborated in the provided abstracts. Genetic models are valuable for studying its functions.

In intracranial fusiform aneurysms, whole-exome sequencing detected PDGFRB gene mutations, and subsequent experiments on mutant smooth muscle cell lines and zebrafish models showed that PDGFRB somatic variants promoted smooth muscle cell phenotype modulation. The JAK-STAT pathway played a crucial role in this process, and the JAK inhibitor Ruxolitinib could reverse the phenotype modulation and inhibit vascular anomalies induced by PDGFRB mutation [1]. In pericytic tumors, PDGFRB mutations were detected in various types including myopericytomas, angioleiomyomas, and glomus tumors, but these mutations were not useful for subclassifying these tumors [2]. A patient with myeloid neoplasm having a PCM1-PDGFRB fusion achieved complete molecular remission after low-dose imatinib treatment [3]. A novel PDGFRB sequence variant was found in a family with a mild form of primary familial brain calcification [4].

In conclusion, Pdgfrb is involved in important biological processes related to cell phenotypes in diseases such as intracranial aneurysms and pericytic tumors. Model-based research, like that on zebrafish and cell lines in intracranial aneurysm studies, has revealed its role in smooth muscle cell phenotype modulation, providing insights into potential therapeutic targets for such diseases.