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Fig. 7. Conotruncal heart defects and coronary anomalies elicited by a novel connexin43 mutation. (A-G) Conotrucal bulge (black arrows in A) and hypoplastic thymus (T) are evident in this homozygous Cx43^W45X pup. At the base of the outflows is a prominent peritruncal coronary vessel (white arrowhead in panels B,C), and coronary aneurysms are seen in the wall of the aortic and pulmonary outflows (white arrows in panels B,C). These can be seen in histological sections (D-G). Also note sinusoidal trabeculae at the base of the outflow (E-G). Arrowhead in D and arrows in E-G denote coronary aneurysms, and arrow in D and arrowheads in E-G denote abnormal coronary plexuses. (H-K). Histology shows a large subepicardial coronary vessel (arrowhead in D) and an abnormally thinned compact layer (arrow in H). In one heart, a coronary artery inserts into the aorta below the level of the valves (I), and enlarges to form a sinus (arrow in panel I). Also observed are a VSD (J) and thickened valves (arrowheads, K). (L) Protein structure of connexin43 is shown on the left, indicating four transmemebrane (TM1, 2, 3 and 4) domains, two extracellular loops (EC1 and 2) and an intracellular loop (ICL). The region spanning EC1 is highly conserved in vertebrates. Sequence trace files (right) revealed a G to A substitution that generated a STOP codon at amino acid 45, which normally encodes tryptophan (W).

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