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Ya, J, Erdtsieck-Ernste, EB, de Boer, PA, van Kempen, MJ, Jongsma, H, Gros, D, Moorman, AF and Lamers, WH (1998) Heart defects in connexin43-deficient mice. Circ. Res. 82:360-6


Cardiac malformation in connexin43 (CX43)-disrupted mice is restricted to the junction between right ventricle and outflow tract, even though CX43 is also expressed abundantly elsewhere. We analyzed cardiac morphogenesis in immunohistochemically and hybridohistochemically stained and three-dimensionally reconstructed serial sections of CX43-deficient embryos between embryonic day (ED) 10 and birth. The establishment of the D configuration in the ascending loop of CX43-deficient hearts is markedly retarded, so that the right ventricle retains a craniomedial position and is connected with the outflow tract by a more acute bend in ED10 and ED11 embryos. Because of the subsequent growth of the right ventricle, this condition usually evolves into a D loop, but when it persists, a "crisscross" configuration develops, with the atrioventricular cushions rotated 90 degrees, a horizontal muscular ventricular septum, and a parallel course of the endocardial ridges of the outflow tract. After ED12, large intertrabecular pouches develop at the ventricular side of both shelflike myocardial structures that support the endocardial ridges of the outflow tract, ie, at the location that was earlier characterized by the acute bend between the right ventricle and the outflow tract and that subsequently develops into the anterosuperior leaflet of the tricuspid valve. Retarded development of the D configuration in the ascending loop of the embryonic heart predisposes the myocardium at the junction of the right ventricle and outflow tract to excessive development of intertrabecular pouches during subsequent development.




Animals; Connexin 43/deficiency; Connexin 43/genetics; Embryonic and Fetal Development/physiology; Female; Heart/embryology; Heart Defects, Congenital/embryology; Heart Defects, Congenital/etiology; Mice/embryology; Mice, Mutant Strains/genetics; Pregnancy



Gene product Qualifier GO ID GO term name Evidence Code with/from Aspect Notes Status

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