作者: A. Calmont , N. Thapar , P. J. Scambler , A. J. Burns
DOI: 10.1111/J.1365-2982.2010.01615.X
关键词: Pathology 、 Enteric nervous system 、 Gastrointestinal function 、 Stomach 、 Ganglion formation 、 Cardiac neural crest cells 、 TBX1 、 Medicine 、 Neural crest 、 Anatomy 、 Vagus nerve
摘要: Background Tbx1 is a member of the Tbox family binding domain transcription factors. TBX1 maps within region chromosome 22q11 deleted in humans with DiGeorge syndrome (DGS), common genetic disorder characterized by numerous physical manifestations including craniofacial and cardiac anomalies. Mice homozygous null mutations phenocopy this have defects abnormal cranial ganglia formation neural crest cell migration. These prompted us to investigate whether extrinsic vagus nerve or intrinsic enteric nervous system abnormalities are prevalent gastrointestinal tract mutant mice. Methods We used situ hybridization for Ret, immunohistochemical staining neurofilament, HuC/D βIII-tubulin study ganglia, nerve, development control mice. Key Results In Tbx1−/− embryos, glossopharyngeal (IXth) (Xth) nerves were malformed abnormally fused. tract, adjacent esophagus severely hypoplastic they did not extend beyond gastro-esophageal junction nor project branches stomach wall, as was observed Tbx1+/+ mice. Conclusions & Inferences Although morphology appeared normal Tbx1+/− mice, these animals had spectrum innervation ranging from mild severe. all genotypes, developed normally. The deficit vagal mice gene implicated DGS raises possibility that similar may underlie number yet unidentified/unreported congenital disorders affecting function.