TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

摘要: Velo-cardio-facial syndrome (VCFS)/DiGeorge (DGS) is a human disorder characterized by number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for 1.5-3.0 Mb region 22q11. To investigate the etiology this disorder, we used cre-loxP strategy to generate mice that 1.5 deletion corresponding on These exhibit significant perinatal lethality and have conotruncal parathyroid The defects can be partially rescued BAC containing TBX1 gene. Mice heterozygous null mutation in Tbx1 develop results together with expression patterns suggest major role gene molecular VCFS/DGS.