mortality/aging
• partial lethality between E14.5 and E16.5
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• partial
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homeostasis/metabolism
• present in most mice
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• in MEFs
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cardiovascular system
N |
• despite showing some cardiac abnormalities, no defects in cardiac systolic function are detected in survivors at 2 or 6 months of age
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• at E12.5 in vivo less F-actin is present in the ventricular myocardia and myocardia around the outflow tract
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• in cultured E12.5 cardiomyocytes randomly orientated and aggregated striated F-actin is seen
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• ventricular noncompaction in embryos
• all survivors display varying degrees of ventricular noncompaction
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• surviving mice show an increase in diastolic left ventricular wall thickness
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• present in most mice
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muscle
• exhibit weaker and more diffuse staining patterns for both alpha actin and alpha actinin
• exhibit fewer striations and randomized or chaotic sarcomeric organization
• sparsely distributed and significantly shorter in width
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• defects in cardiomyocyte cell-cell adhesion with adherens junctions that display prominent plaques and misalignment alongside the plasma membrane
• however, desmosomes appear normal
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cellular
• impaired in MEFs
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• lamellipodia formation in MEFs at 2 hours after serum restoration is reduced
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growth/size/body
• at E14.5
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