mortality/aging
• homozygotes die within 15-20 minutes of birth
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homeostasis/metabolism
respiratory system
• a gradual decrease in breathing is seen after birth
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nervous system
• the hippocampal and fimbrial glia are slightly less mature in homozygotes compared to wild-type mice
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• the glial sling cells (a migratory population of developing neurons) are diffusely distributed in the subventricular zone near the glial wedge and ectopically in the septum area
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• asymmetrically enlarged ventricles were seen in some mutants
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• the anterior and posterior branches of the anterior commissure join normally but fail to reach the midline
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• the cross-sectional diameter of the optic nerve tracts and size of the optic chiasm are increased and most optic nerve fibers fail to reach the lateral geniculate nucleus of the thalamus
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• 14 out of 35 homozygotes lack the anterior dorsal areas of the thalamus and have poor midline fusion of the two hemispheres in the dorsal side of the thalamus
• most optic nerve fibers fail to reach the lateral geniculate nucleus of the thalamus
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• calretinin-positive cell migration is delayed resultin in areas in the marginal zone that are devoid of these cells
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• the width of the cortical plate is reduced
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• the subplate is shifted outwards
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• axon tracts of the corpus collosum fail to cross the midline and in the cingulate cortex form abnormal neuroma-like structures (Probst's bundles)
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• the diameter of the fimbria tract is enlarged
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• the diameter of the fornix tract is enlarged and the main body and columns of the fornix heading towards the mammilary body are missing
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• in the cingulate cortex axons of the corpus callosum form abnormal neuroma-like structures (Probst's bundles)
• the band of the intermediate zone in the cortex is abnormally expanded
• thalamocortical and corticofugal tracts are abnormally thick and over fasciculated and the number of SNAP-25 positive thalamocortical axon bundles at the corticostriatal junction are reduced by about 50%
• the number of thalamocortical and corticofugal calretinin-positive axon fibers in the subplate and external capsule regions are reduced and many of these fibers do not successfully pass up or down the corticostriatal junction
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• the apical dendrites of the pyramidal neurons in the prefrontal cortex are slim and branched abnormally
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• the size of the optic chiasm is increased
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vision/eye
• the size of the optic chiasm is increased
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cellular
• the hippocampal and fimbrial glia are slightly less mature in homozygotes compared to wild-type mice
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• the glial sling cells (a migratory population of developing neurons) are diffusely distributed in the subventricular zone near the glial wedge and ectopically in the septum area
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