craniofacial
• homozygous mutant mice exhibit craniofacial malformation
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skeleton
• homozygous mutant mice develop progressively severe kyphosis that is prominent by 6 months of age
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• histological analysis of homozygous mutants reveals abnormal formation of synchondroses
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behavior/neurological
• by 2 weeks of age, paralysis of the hind legs of homozygous mutant mice is evident
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growth/size/body
• growth of homozygous mutants is retarded early in life, but they later grow normally
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vision/eye
• by 2 weeks of age, mice homozygous for this mutation exhibit watery eyes
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