skeleton
• mononuclear osteoclasts are present but these cells fail to fuse to form multinuclear osteoclasts
• in mixed cultures of homozygous and wild-type cells mutant osteoclasts fuse with wild-type cells to form multinuclear cells
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• bone resorbtion is reduced even when a similar number of nuclei are present
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• bone volume per tissue is increased
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• trabecular bone mass is increased
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• mild osteopetrosis is seen; however, tooth eruption and formation of the bone marrow cavity are normal
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immune system
• mononuclear osteoclasts are present but these cells fail to fuse to form multinuclear osteoclasts
• in mixed cultures of homozygous and wild-type cells mutant osteoclasts fuse with wild-type cells to form multinuclear cells
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• formation of foreign body giant cells is inhibited
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• bone resorbtion is reduced even when a similar number of nuclei are present
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hematopoietic system
• mononuclear osteoclasts are present but these cells fail to fuse to form multinuclear osteoclasts
• in mixed cultures of homozygous and wild-type cells mutant osteoclasts fuse with wild-type cells to form multinuclear cells
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• formation of foreign body giant cells is inhibited
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• bone resorbtion is reduced even when a similar number of nuclei are present
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cellular
• mononuclear osteoclasts are present but these cells fail to fuse to form multinuclear osteoclasts
• in mixed cultures of homozygous and wild-type cells mutant osteoclasts fuse with wild-type cells to form multinuclear cells
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