Tbx1, a gene encoding a T-box transcription factor, is associated with DiGeorge syndrome [1,2,4]. It is neither a strong transcriptional activator nor repressor but regulates numerous genes via epigenetic modifications [1]. Tbx1 is involved in multiple biological processes, including development of the cardiac, vascular, and central nervous systems [1].

In mouse models, Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit, indicating a role in 22q11.2 deletion syndrome-related neurodevelopmental disorders [3]. Tbx1-deficient mice show complete mineralization of the spheno-occipital synchondrosis at birth due to accelerated chondrocyte differentiation, suggesting its role in regulating chondrocyte maturation and osteogenesis [4]. Loss of Tbx1 in mouse brain endothelial cells causes global brain vascular defects, including vessel hyperplasia, enhanced angiogenic sprouting, and network disorganization [5].

In conclusion, Tbx1 is crucial for normal development in various systems. Mouse models with Tbx1 haploinsufficiency or deficiency have revealed its significance in diseases associated with 22q11.2 deletion syndrome, craniofacial development, and brain vascularization. Understanding Tbx1's functions provides insights into the mechanisms of these developmental processes and related disorders.