mortality/aging
• almost all homozygotes die by 6 weeks after birth
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• about 80% of homozygotes die in the first week after birth apparently of respiratory failure
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craniofacial
• cranial bones derived from mesenchymal precursors are not affected
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• the anterior fontanelle is wider in homozygous mutants compared to wild-type mice
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• the occipital bones are absent in homozygous mutants
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• the zygomatic arches are absent in homozygous mutants
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• nasal bone formation is impaired in homozygous mutants
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growth/size/body
• nasal bone formation is impaired in homozygous mutants
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• newborn homozygotes have significantly lower body weights and lengths compared to wild-type littermates
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limbs/digits/tail
• ossification centers are absent in phalangeal bones
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• the primary trabeculae in the metaphyseal region are diminished in homozygous mutants compared to wild-type mice
• the cortical bone of the mid-shaft region is thinner and more porous in homozygous mutants compared to wild-type mice
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skeleton
• homozygotes display severe abnormalities of the intracartilaginous bones, however intramembranous bones and cortical bones derived from mesenchymal precursors are not affected
• the overall skeletal phenotype is less severe than that reported in mice lacking both isoforms of Runx2
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• cranial bones derived from mesenchymal precursors are not affected
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• the anterior fontanelle is wider in homozygous mutants compared to wild-type mice
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• the occipital bones are absent in homozygous mutants
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• the zygomatic arches are absent in homozygous mutants
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• nasal bone formation is impaired in homozygous mutants
|
• ossification centers are absent in phalangeal bones
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• the primary trabeculae in the metaphyseal region are diminished in homozygous mutants compared to wild-type mice
• the cortical bone of the mid-shaft region is thinner and more porous in homozygous mutants compared to wild-type mice
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• the distal clavicles are abnormal in homozygous mutants
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• the zone of hypertrophic chondrocytes is wider in long bones from homozygous mutants compared to wild-type mice
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• the long bones are shorter in homozygous mutants compared to wild-type mice
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• the distal ribs are abnormal in homozygous mutants
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• the cortical bone of the mid-shaft region is thinner and more porous in homozygous mutants compared to wild-type mice
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• the primary trabeculae in the metaphyseal region are diminished in homozygous mutants compared to wild-type mice
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• ossification centers are absent in phalangeal bones
• osteoblast maturation ex vivo is abnormal in cells from homozygous mice
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• intracartilaginous ossification of the caudal spine is delayed
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respiratory system
• nasal bone formation is impaired in homozygous mutants
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