Analysis Tools
mortality/aging
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• number of homozygous mutant embryos recovered at E8.0 is normal but declines significantly after E14; most likely due to cardiac defects
• surviving homozygotes show a similar survival rate to wild-type controls (> 10 weeks)
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nervous system
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• although ependymal cilia show active motility, the flow velocity is slightly decreased likely due to a narrower range of effective stroke
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hydrocephaly
(
J:278278
)
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• 35% of homozygotes exhibit hydrocephalus
• 16% of homozygotes exhibit both hydrocephalus and situs inversus
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reproductive system
| N |
• surprisingly, both males and females are fertile
• epididymal sperm show normal in vitro fertilization rate
• sperm flagella show normal ultrastructure
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• average sperm curvilinear swimming velocity is significantly reduced most likely due to abnormal wave propagation
• sperm show transient arrest of pro-hook bend propagation
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• when either or both parents are homozygotes, litter size is significantly lower than that from wild-type parents (1~2 versus 7~8, respectively)
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growth/size/body
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• 49% of homozygotes exhibit situs inversus
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embryo
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• formation of 9+0 nodal cilia is severely disrupted
• at E7.5, longer microvilli are more prominent on the cell surface
• at E8.0, no cilia are detected in the central node region; however, significant numbers of cilia are observed in the peripheral region
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• at E7.5, nodal cilia are completely absent in some cases
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• at E7.5, nodal cilia are strikingly sparse (~5 cilia on average)
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• at E7.5, the number of motile cilia on the node is less than 15% of that in wild-type controls
• nodal cilia generate a certain fluid flow that is random in direction and the flow velocity is significantly lower than that in wild-type controls
• nodal cilia move in an irregular, not rotary manner and often in planar trajectories, unlike wild-type cilia
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• at E8.0, both Nodal and Lefty are expressed on both sides, unlike in wild-type embryos where both genes are expressed only in the left plate mesoderm
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cellular
| N |
• sperm flagella, trachea cilia and brain ependymal cilia exhibit normal ultrastructure with normal 9+2 axonemes and mostly intact outer dynein arm (ODAs)
• in rare cases a few ODAs are absent from some doublet microtubules
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• formation of 9+0 nodal cilia is severely disrupted
• at E7.5, longer microvilli are more prominent on the cell surface
• at E8.0, no cilia are detected in the central node region; however, significant numbers of cilia are observed in the peripheral region
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• at E7.5, nodal cilia are completely absent in some cases
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• at E7.5, nodal cilia are strikingly sparse (~5 cilia on average)
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|
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• average sperm curvilinear swimming velocity is significantly reduced most likely due to abnormal wave propagation
• sperm show transient arrest of pro-hook bend propagation
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• although ependymal cilia show active motility, the flow velocity is slightly decreased likely due to a narrower range of effective stroke
|
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• at E7.5, the number of motile cilia on the node is less than 15% of that in wild-type controls
• nodal cilia generate a certain fluid flow that is random in direction and the flow velocity is significantly lower than that in wild-type controls
• nodal cilia move in an irregular, not rotary manner and often in planar trajectories, unlike wild-type cilia
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• although tracheal cilia show active motility, the flow velocity is decreased to almost half that in wild-type controls
• the frequency of trachea ciliary beating is significantly reduced and the velocity of the recovery stroke is drastically slower than that in wild-type cilia
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respiratory system
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• although tracheal cilia show active motility, the flow velocity is decreased to almost half that in wild-type controls
• the frequency of trachea ciliary beating is significantly reduced and the velocity of the recovery stroke is drastically slower than that in wild-type cilia
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cardiovascular system
