Reduced dosage of β-catenin genetically rescues intracardiac anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

ABSTRACT: Approximately 60-70% of patients with 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome) have cardiac outflow tract anomalies including persistent truncus arteriosus (PTA) as the most severe defect. Among the genes in the 22q11.2 region, TBX1, encoding a T-box transcription factor is a major candidate for cardiovascular malformations and its inactivation in mice results in a PTA. To identify novel signaling mechanisms that function downstream, we found that Tbx1 restricts canonical Wnt signaling in the pharyngeal apparatus. To test for tissue specificity within the pharyngeal apparatus, we inactivated Tbx1 in the anterior portion of the secondary heart field (AHF) mesoderm using the Mef2c-AHF-Cre allele and observed a full penetrant PTA (n = 30). Tbx1 prom

ORGANISM(S): Mus musculus

SUBMITTER: Tingwei Guo 

PROVIDER: E-GEOD-78125 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress