mortality/aging
• reduced postnatal survival is seen as a result of damage to the spinal cord with only 20% of homozygotes surviving to weaning <
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embryo
• essentially immotile nodal cilia and essentially no directional movement in the nodal flow
|
• premature truncation of the notochord in the caudal or sacral region with or without a discontinuous caudal notochord is seen
• more anterior defects in the notochord compared to Flhtc homozygotes may be seen
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• variable size
• abnormal expression patterns of genes delineating the node
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• axonemal microtubule structure is disrupted
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• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells
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• cilia length is reduced at the mid to late head fold stage
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limbs/digits/tail
short tail
(
J:91405
)
• reduced tail length is seen with more frequently and with greater severity compared to Flhtc homozygotes
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skeleton
• mutants have fewer vertebrae compared to wild-type mice resulting from interruption or premature truncation of the vertebra column
• this phenotype is more frequent and severe compared to Flhtc homozygotes, however defects are still confined to the tail and sacral region
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cellular
• axonemal microtubule structure is disrupted
|
• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells
|
• cilia length is reduced at the mid to late head fold stage
|
• essentially immotile nodal cilia and essentially no directional movement in the nodal flow
|