mortality/aging
• although found at the expected Mendelian ratio at E13.5 and E18.5, no homozygotes were present by 3 weeks of age
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• homozygotes survived to birth but died shortly thereafter
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cardiovascular system
• at E18.5, one of 5 mice showed myodegeneration/mineralization of the heart
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• at E18.5, phosphorylation of E-cadherin was significantly increased while total E-cadherin levels remained normal in hypomorphic hearts; beta-catenin localization was altered, with more of the protein present at the plasma membrane and less protein found in the cytoplasm, suggesting altered cell-cell adhesion
• however, cell proliferation and cardiomyocyte colonization of the septum were unaffected at E13.5 and marker analysis suggested normal epithelial-mesenchymal transition at E18.5
• no major defects were detected in other organs and tissues
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• at E18.5, one of 5 mice showed a left atrioventricular valve defect
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• at E18.5, three of 5 mice exhibited ventricular septal defects (VSDs) characterized by incomplete closure of the membranous portion of the ventricular septum
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muscle
• at E18.5, one of 5 mice showed myodegeneration/mineralization of the heart
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