mortality/aging
• homozygotes die at midgestation following E10.5; survival drops significantly thereafter
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embryo
• increased apoptosis in noted in the mutant tail bud at E9.5
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• at E8.5 (but not prior to E8.0), homozygotes show an expanded presomitic paraxial mesoderm relative to wild-type embryos
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• by E9.5 dpc, homozygotes completely lack a detectable paraxial mesoderm
• however, notochord and intermediate and lateral mesoderm remain grossly unaffected
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• the neural tube fails to close at the hindlimb level
• normal closure is detected at the rostral region
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• at E9.0, homozygotes display a kinked neural tube posterior to forelimb buds
• in contrast, the head and anterior body structures (e.g. heart) remain unaffected
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• after E9.0, somite size is reduced in somites ~8-11
• in contrast, the anterior-most somites (1-7) appear normal
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• after E9.0, homozygotes show no identifiable somites or segment patterning in the trunk posterior to the forelimbs
• at E10.5, homozygotes lack detectable segmented somites in the interlimb region
• no somites are detectable beyond somite 11
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• at E9.0, homozygotes display an enlarged tail bud with ectopic blood pools
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growth/size/body
• at E14.5, the few surviving homozygotes lack a tail and possess a grossly normal but very thin body with relatively normal forelimbs and hindlimbs
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limbs/digits/tail
• at E9.0, homozygotes display an enlarged tail bud with ectopic blood pools
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absent tail
(
J:66514
)
• at E14.5, homozygotes lack a tail but possess grossly normal limbs
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muscle
• after E9.0, homozygotes display impaired myotomal patterning in somites ~8-11
• at E11.5, myotomes are absent at the interlimb region
• at E12.5, skeletal muscle is absent from the mutant hindlimbs while forelimb muscles are present, albeit reduced in size
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skeleton
absent ribs
(
J:66514
)
• at E14.5 and E17.5 dpc, all ribs are absent
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• at E14.5 and E17.5, some of the most posterior cervical vertebrae are often malformed and fused
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• at E14.5 and E17.5, all vertebrae posterior to cervical level are absent
• in contrast, the head skeleton, most cervical vertebrae, and limb skeleton appear largely normal
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nervous system
• the neural tube fails to close at the hindlimb level
• normal closure is detected at the rostral region
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• at E9.0, homozygotes display a kinked neural tube posterior to forelimb buds
• in contrast, the head and anterior body structures (e.g. heart) remain unaffected
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• at E11.5, dorsal root ganglia are present but appear poorly segmented
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cellular
• increased apoptosis in noted in the mutant tail bud at E9.5
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