Analysis Tools
mortality/aging
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• mice die shortly after birth most likely due to respiratory defects
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skeleton
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• defects are most prominent in the caudal regions
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• the exoccipital, basoccipital, atlas and axis bones are abnormal but less affected than the vertebrae
• parietal and interparietal bones fail to ossify
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• caudal vertebrae and associated ossification centers are absent
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• neural arches are disorganized in the lumbar vertebrae
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• chondrocytes are absent from around the notochord due to increased apoptosis in sclerotome mesenchymal cells around the notochord and migrating mesenchymal cells caused by defective mitosis (unaligned or lagging chromosomes)
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• at E13.5, expression of Col2a1 and Col9a2 is barely detectable around the notochord indicating and no col2a1 is detected at E15.5 resulting in partial formation of cartilage
• however, the cartilage primordial of the axial skeleton forms in neonates, chondrocyte differentiation occurs normally and mouse embryonic fibroblasts are capable of differentiating into chondrocytes in culture
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• ossification centers in the caudal vertebrae are lost while those in the ribs and hindlimbs are impaired
• parietal and interparietal bones fail to ossify
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craniofacial
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• the exoccipital, basoccipital, atlas and axis bones are abnormal but less affected than the vertebrae
• parietal and interparietal bones fail to ossify
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• outgrowth of the face is abnormal
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embryo
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• after E9 mice exhibit a gradual growth retardation
• at E9.5 to E10.0, mice have only 20 to 25 somites compared to the 25 to 30 found in wild-type mice
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• at E9.5 to E10.0, mice have only 20 to 25 somites compared to the 25 to 30 found in wild-type mice
• however, somite polarity is established and generation of mesenchymal sclerotome occurs normally
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cellular
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• 36.1% mouse embryonic fibroblasts mitosis in culture exhibit abnormal mitosis with chromosomes failing to align properly along the metaphase plate and cells exhibiting multiple cytokinesis of binucleated cells dividing into 3 or 4 cells that are likely to be tetraploid
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behavior/neurological
limbs/digits/tail
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• caudal vertebrae and associated ossification centers are absent
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short tail
(
J:126471
)
growth/size/body
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• outgrowth of the face is abnormal
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• after E9 mice exhibit a gradual growth retardation
• at E9.5 to E10.0, mice have only 20 to 25 somites compared to the 25 to 30 found in wild-type mice
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