mortality/aging
• all homozygotes are born alive but die within 20 minutes after birth
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respiratory system
• mutant nasal placodes fail to grow normally after E9.5
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• mutant nasal epithelium fails to grow normally after E9.5
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• all newborn homozygotes make intermittent gasping motions
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• at autopsy, respiratory alveoli appear uninflated, indicating respiratory failure
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nervous system
• at E12.5, the dorsal telencephalon is reduced in size whereas the ventral telencephalon is nearly absent
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• development of the ventral telencephalon is more severely affected than that of the dorsal telencephalon
• proliferation of ventral telencephalic neuroepithelium is reduced progressivley such that growth stops at E10.5
• abnormal proliferation of dorsal telencephalic neuroepithelium becomes more severe as development proceeds
• at E12.5, dorsal telencephalic vesicles are positioned more ventrally and closer to the level of the eyes
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• by E10.5, mutant brains exhibit significantly smaller telencephalic vesicles; this size difference is pronounced at E12.5
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• newborn homozygotes exhibit a 95% mass reduction of the cerebral hemispheres which rest on the dorsolateral surface of the diencephalon
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• at E12.5, mutant brains display an uneven cerebral cortex due to buckling of the neuroepithelium and to variations in cortical tissue thickness
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• mutant olfactory bulbs are significantly smaller than wild-type
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• at E12.5, mutant ganglionic eminences are replaced by a thin neuroepithelium
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craniofacial
• newborn homozygotes display flattening of the frontal skull
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• mutant nasal placodes fail to grow normally after E9.5
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• mutant nasal epithelium fails to grow normally after E9.5
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vision/eye
• newborn homozygotes display ellipsoid instead of round eyes
• ventral rotation of the entire eye is observed at E12.5
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• newborn homozygotes display an irregular retinal contour, that is pronounced in the nasal retina
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• at E12.5, mutant eyes display a wavy anterior retinal neuroepithelium
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homeostasis/metabolism
behavior/neurological
• newborn homozygotes are flaccid and exhibit minimal spontaneous movement
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skeleton
• newborn homozygotes display flattening of the frontal skull
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taste/olfaction
• mutant nasal placodes fail to grow normally after E9.5
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• mutant nasal epithelium fails to grow normally after E9.5
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growth/size/body
• mutant nasal epithelium fails to grow normally after E9.5
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