Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43

K Maass, A Ghanem, JS Kim, M Saathoff… - Molecular biology of …, 2004 - Am Soc Cell Biol
K Maass, A Ghanem, JS Kim, M Saathoff, S Urschel, G Kirfel, R Grummer, M Kretz…
Molecular biology of the cell, 2004Am Soc Cell Biol
More than 97% of mice in which the C-terminal region of connexin43 (Cx43) was removed
(designated as Cx43K258stop) die shortly after birth due to a defect of the epidermal barrier.
The abnormal expression of Cx43K258stop protein in the uppermost layers of the epidermis
seems to perturb terminal differentiation of keratinocytes. In contrast to Cx43-deficient mice,
neonatal Cx43K258stop hearts show no lethal obstruction of the right ventricular outflow
tract, but signs of dilatation. Electrocardiographies of neonatal hearts reveal repolarization …
More than 97% of mice in which the C-terminal region of connexin43 (Cx43) was removed (designated as Cx43K258stop) die shortly after birth due to a defect of the epidermal barrier. The abnormal expression of Cx43K258stop protein in the uppermost layers of the epidermis seems to perturb terminal differentiation of keratinocytes. In contrast to Cx43-deficient mice, neonatal Cx43K258stop hearts show no lethal obstruction of the right ventricular outflow tract, but signs of dilatation. Electrocardiographies of neonatal hearts reveal repolarization abnormalities in 20% of homozygous Cx43K258stop animals. The very rare adult Cx43K258stop mice show a compensation of the epidermal barrier defect but persisting impairment of cardiac function in echocardiography. Female Cx43K258stop mice are infertile due to impaired folliculogenesis. Our results indicate that the C-terminally truncated Cx43K258stop mice lack essential functions of Cx43, although the truncated Cx43 protein can form open gap junctional channels.
Am Soc Cell Biol