mortality/aging
• all homozygotes die around birth; however, the expected number of homozygotes is seen at E17.5
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nervous system
• in several homozygotes hemorrhaging in the brain is seen
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• severe cell death is seen in the nervous system particularly in CA1 pyramidal cells in the hippocampus, cortical cells, and internal capsule cells; however the kidneys, spleen, heart, liver, muscle and stomach appear normal
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embryo
• dorsal truncation
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• homozygotes become progressively retarded in growth and development with dorsal truncation, stunted tails and cranial defects seen at later stages
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cellular
• severe cell death is seen in the nervous system particularly in CA1 pyramidal cells in the hippocampus, cortical cells, and internal capsule cells; however the kidneys, spleen, heart, liver, muscle and stomach appear normal
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• homozygous MEFs display decreased proliferation in culture with cumulative cell numbers after 8 days in culture reaching only 35% that of wild-type and the addition of growth factors did not stimulate division of homozygous MEFs
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cardiovascular system
• in several homozygotes hemorrhaging in the brain is seen
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craniofacial
• cranial defects
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limbs/digits/tail
short tail
(
J:101358
)
• stunted tail
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respiratory system
• in some homozygotes alveolar volume is reduced; however inflated lings in homozygotes appear normal
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growth/size/body
• homozygotes become progressively retarded in growth and development with dorsal truncation, stunted tails and cranial defects seen at later stages
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