mortality/aging
• born with a slight purple color and die shortly after birth
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nervous system
• brain weight but not volume is reduced
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• at E17.5
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• red lesions present of the cortex of neonates
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• scattered apoptotic cells are seen at E14.5 in the dorsal and ventral cortices, with more widespread cells detected at E17.5
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• at E17.5
• at E15.5 all formed layers of the cortex are thinner
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cellular
• significantly lower total NAD pool level in the cortex rpimarily due to reduced NAD+ level in the mitochondria
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• linearized and forms various geometric shapes
• the phenotype deteriorates overtime
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• scattered apoptotic cells are seen at E14.5 in the dorsal and ventral cortices, with more widespread cells detected at E17.5
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• expression analysis indicates mitochondrial protein biosynthesis is disrupted with reduced levels of complexes CI and CIV at E14.5 and E17.5
• however, no change in mitochondrial mass is detected
• JC-1 staining analysis indicates reduced mitochondrial membrane potential
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• impaired OXPHOS biogenesis with reduced ATP levels and increased reactive oxygen species levels at E17.5
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homeostasis/metabolism