mortality/aging
• homozygotes are alive until E18.5, however no live homozygotes among newborns are found, indicating that mutants die around birth
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growth/size/body
embryo
cardiovascular system
• hearts have an abnormally thin trabeculated wall of both ventricular chambers at E16
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• mutants exhibit noncompaction of the ventricular wall, so that by E19, the outer compact zone is absent
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• thin myocardium is due to a deficiency of the outer compact zone
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• reduction in coronary vessels
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• seen at E13 in 14 of 16 homozygotes
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• holes are seen within the ventricular septum
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• ventricular septal defect at E13
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• mutants exhibit an abnormally deep interventricular groove
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• cell proliferation of cardiomyocytes, but not cardiac fibroblasts, is up-regulated when grown in culture
• the trabecular layer shows an increase in cardiomyocyte proliferation between E12.5 and E16.5
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homeostasis/metabolism
respiratory system
• lungs of newborns do not inflate resulting in respiratory insufficiency, caused by rib and sternum defects as the lungs and diaphragm appear normal
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skeleton
• ossification of the ribcage is less than that of wild-type
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• sternum fails to fuse and ossify
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muscle
• hearts have an abnormally thin trabeculated wall of both ventricular chambers at E16
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• mutants exhibit noncompaction of the ventricular wall, so that by E19, the outer compact zone is absent
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• thin myocardium is due to a deficiency of the outer compact zone
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• cell proliferation of cardiomyocytes, but not cardiac fibroblasts, is up-regulated when grown in culture
• the trabecular layer shows an increase in cardiomyocyte proliferation between E12.5 and E16.5
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cellular
• cell proliferation of cardiomyocytes, but not cardiac fibroblasts, is up-regulated when grown in culture
• the trabecular layer shows an increase in cardiomyocyte proliferation between E12.5 and E16.5
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