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Table 1.

Summary of developmental defects in Tbx1 neonatal mutant mice

Cardiovascular defects
Cranial facial defects
GenotypeNumber of embryosPTADAAARSCIAA-BAbsent earsCleft palateAplasia of thymus
neo/+ 81 0 (0%) 0 (0%) 6 (7%) 2 (2%) 0 (0%) 0 (0%) 0 (0%) 
+/– 37 0 (0%) 0 (0%) 5 (14%) 3 (8%) 0 (0%) 0 (0%) 0 (0%) 
neo/neo 39 35 (90%) 2 (5%) 35 (90%) 2 (5%) 0 (0%) 0 (0%) 39 (100%) 
neo/– 14 14 (100%) 0 (0%) 14 (100%) 0 (0%) 14 (100%) 7 (50%) 14 (100%) 
–/– 19 18 (95%) 1 (5%) 18 (95%) 0 (0%) 19 (100%) 19 (100%) 19 (100%) 
Cardiovascular defects
Cranial facial defects
GenotypeNumber of embryosPTADAAARSCIAA-BAbsent earsCleft palateAplasia of thymus
neo/+ 81 0 (0%) 0 (0%) 6 (7%) 2 (2%) 0 (0%) 0 (0%) 0 (0%) 
+/– 37 0 (0%) 0 (0%) 5 (14%) 3 (8%) 0 (0%) 0 (0%) 0 (0%) 
neo/neo 39 35 (90%) 2 (5%) 35 (90%) 2 (5%) 0 (0%) 0 (0%) 39 (100%) 
neo/– 14 14 (100%) 0 (0%) 14 (100%) 0 (0%) 14 (100%) 7 (50%) 14 (100%) 
–/– 19 18 (95%) 1 (5%) 18 (95%) 0 (0%) 19 (100%) 19 (100%) 19 (100%) 

PTA, persistent truncus arteriosus; DAA, double aortic arch; ARSC, Aberrant right subclavian artery; IAA-B, interrupted aortic arch type B.

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