mortality/aging
• homozygous pups are found dead in the cage on the day of birth and display no signs of feeding; when removed by caesarian section on E19, homozygotes are alive and indistinguishable from littermates, but could not breathe and die within 10 minutes
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skeleton
• the tips of the floating ribs are rounded in mutants compared to wild-type
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• neural arch of the tenth thoracic to first lumbar vertebrae is square shaped
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• mutant mice have first to ninth/eleventh caudal vertebrae with lateral projections
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• the first caudal vertebra is transformed anteriorly at one segment into a lumbar vertebra
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• thoracic vertebrae anterior to thoracic vertebra 12 have transverse processes with processes of the twelfth being smaller than the others
• the spinus process of the second thoracic vertebra is smaller than in wild-type
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• the second lumbar vertebra resembles the transitional vertebra resulting in the anterior transformation of neural arches from T10-L2
• anterior transformation of transverse process is observed only in thoracic vertebrae 10-12 but not in 13 to lumbar vertebrae 2
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• mutants display anterior transformation of the lumbar vertebrae 1 and 2 but have the normal number of vertebra bearing ribs
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• 70% of null mice show anterior transformation of the first sacral vetebra to an additional lumbar vertebra, but had the normal number of sacral vertebrae
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respiratory system
• at time of death, alveoli are shrunken and lungs contain little air
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limbs/digits/tail
• mutant mice have first to ninth/eleventh caudal vertebrae with lateral projections
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• the first caudal vertebra is transformed anteriorly at one segment into a lumbar vertebra
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integument
• homozygotes lack vibrissae in the face
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