mortality/aging
• mutant mice are live-born but die within 24 hrs of birth
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limbs/digits/tail
• AER formation fails to initiate in the mutant hindlimbs whereas in the forelimbs, AER is properly initiated at 20 somites but eventually disappears in the anterior and posterior extremes by ~38 somites
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• mutant forelimbs are present but truncated at the level of the humerus or ulna
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• in newborn mutants, the humerus appears largely unaffected but shows absence of the deltoid crest
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• in mutant newborns, the proximal ulna is present to variable extents
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• all mutant pups completely lack hindlimbs
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skeleton
• in newborn mutants, the humerus appears largely unaffected but shows absence of the deltoid crest
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• in mutant newborns, the proximal ulna is present to variable extents
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embryo
• in mutant hindlimbs, where an AER never forms, extensive apoptosis occurs throughout the hindlimb mesenchyme and adjacent ectoderm at the 35-42 somite stage; elevated apoptosis in the mesenchyme is more significant dorsally
• in the forelimbs, however, where the AER disappears later in development, apoptosis is restricted to the distal mesenchyme and ectoderm
• no significant reduction of cell proliferation is observed in the mutant mesenchyme or ectoderm
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• AER formation fails to initiate in the mutant hindlimbs whereas in the forelimbs, AER is properly initiated at 20 somites but eventually disappears in the anterior and posterior extremes by ~38 somites
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behavior/neurological
• newborn mutant mice fail to nurse
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cellular
• in mutant hindlimbs, where an AER never forms, extensive apoptosis occurs throughout the hindlimb mesenchyme and adjacent ectoderm at the 35-42 somite stage; elevated apoptosis in the mesenchyme is more significant dorsally
• in the forelimbs, however, where the AER disappears later in development, apoptosis is restricted to the distal mesenchyme and ectoderm
• no significant reduction of cell proliferation is observed in the mutant mesenchyme or ectoderm
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