mortality/aging
• one of six homozygotes (from two litters) examined at E17.5 died in utero
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• six of ten homozygotes (from 5 litters) died within 0.5 days of birth; three survived 0.5 days but died before day 1.5 and one female survived to adulthood
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nervous system
hydrocephaly
(
J:67737
)
• by E17.5, all homozygous mutant embryos displayed a mild midbrain hydrocephaly
• single female surviving to adulthood displayed hydrocephaly in the caudal region of the cerebral hemispheres as well as in the midbrain
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• at E14.5, homozygous mutant embryos exhibited a highly malformed mesencephalon
• at E17.5, a large portion of mesencephalic tissue was absent
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• at E17.5, the mutant frontal lobes appeared to extend more caudally, probably due to expansion into regions normally occupied by the missing mesencephalon
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• at E14.5, homozygous mutant embryos exhibited a highly malformed metencephalon
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• at E17.5, the mutant cerebellar region was absent
• surprisingly, the single female survivor was hydrocephalic but retained the posterior portion of the cerebellum
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behavior/neurological
• single female survivor pivoted both clockwise and counterclockwise around the rear legs but was able to jump >30 cm verically, indicating absence of muscle wastage or defects in local motor neuron activity
• in addition, this female responded normally to stimuli of light, smell, touch and sound
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