mortality/aging
• homozygotes are unable to breathe and die shortly after birth
|
nervous system
• homozygotes may exhibit defects in neuronal growth-cone function and axon guidance, as suggested by a reduction in signal transduction by RhoA and its effector ROCK
|
• newborn homozygotes exhibit abnormal telencephalon morphogenesis, with a less compact zone of neurons surrounding each dilated lateral ventricle, scattered debris, absence of white matter intrahemispheric connection, and disorganized adjacent white tracts with frequent vacuoles
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• mutant brains lack the telencephalic commissure, a major connection between the left and right hemispheres
|
• newborn homozygotes may exhibit impaired synaptic activity, as suggested by decreased expression of a number of glutamate receptor subunits and of syntaxin binding protein 1
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respiratory system
• lungs from newborn homozygotes display collapsed alveolar spaces
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atelectasis
(
J:85160
)
• when placed in PBS, dissected mutant lungs fail to inflate and float, suggesting that homozygotes fail to inflate their lungs after birth
|
• lungs from newborn homozygotes exhibit hypercellular alveolar septa
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• newborn homozygotes fail to breathe
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homeostasis/metabolism
cellular
• homozygotes may exhibit defects in neuronal growth-cone function and axon guidance, as suggested by a reduction in signal transduction by RhoA and its effector ROCK
|