Analysis Tools
mortality/aging
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• severely affected mutants do not survive beyond E10.5, however moderately and mildly affected mutants recover from the phenotype, such that they survive to birth
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cardiovascular system
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• severely affected mutants display elevated myocyte density and cellular hypertrophy in the left ventricle
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• the outflow tract is elongated distally and physically displaced from the inflow region
• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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• exhibit variable penetrance of cardiac development abnormalities: those mildly or moderately affected mutants recover from the phenotypes, such that by E12.5-14.5, heart development appears normal, while severely affected mutants die by E10.5
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• as early as E8, exhibit extension of looping
• at E9.5, hearts do not show a defect in the initiation and onset of looping as hearts loop to the right, however looping is abnormal, with a significant overextension of the heart tube
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• as early as E8, exhibit expansion of the primary heart tube
• heart tube is displaced both ventrally away from the body and laterally
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• exhibit defective left ventricle development, impaired left ventricle differentiation and expansion leading to severe necrosis
• in moderately affected mutants, the presumptive left ventricle is reduced in size but undergoes expansion
• in severely affected mutants, ventricular expansion fails and is associated with an almost complete absence of chamber lumen
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• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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muscle
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• severely affected mutants display elevated myocyte density and cellular hypertrophy in the left ventricle
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• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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cellular
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• exhibit elevated proliferation of cardiomyocytes in the distal outflow tract
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