mortality/aging
• mice die during or shortly after birth
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skeleton
• all skeletal elements are smaller than in wild-type mice
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• the chondro-cranial base is shortened compared to in wild-type mice
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• at E14.5, endochondral chondrocytes fail to exhibit a change from proliferation to hypertrophic cells unlike in wild-type mice
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• at E15.5, mice lack an organized hypertrophic zone unlike wild-type mice
• differentiation of hypertrophic chonndrocytes is incomplete
• chondrocytes exhibit abnormal mineralization that precludes vascularization of skeletal elements
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• the skull bones exhibit increased sensitivity to potassium hydroxide compared to wild-type bones
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• mice exhibit abnomal mineralization of hypertrophic chondrocytes in long bones that is associated with increased chondrocyte apoptosis unlike in wild-type mice
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growth/size/body
• mice are born with protruding tongues
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• mice are small at birth
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• the chest cavity is small and compresses the internal organs into the abdominal cavity unlike in wild-type mice
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craniofacial
• the chondro-cranial base is shortened compared to in wild-type mice
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• mice are born with protruding tongues
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digestive/alimentary system
• mice are born with protruding tongues
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limbs/digits/tail
• the orientation of the limbs is skewed likely due to abnormal articular joint development
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