cellular
• osteoblast colony forming units from mice with a paternally inherited mutant allele are smaller and contain cells with fewer contacts and less dense packing
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• in culture hematopoietic progenitors from mice with a paternally inherited mutant allele produce fewer large (greater than 10 nuclei) osteoclasts
• however, mutant cells transplanted into wild-type mice are able to form normal numbers of large osteoclasts
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• only mice inheriting the mutant allele paternally show abnormal phenotypes
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growth/size/body
• growth retardation is detectable as early as E10.5 in mice with a paternally inherited mutant allele
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• about a 30% reduction in birth weight in mice with a paternally inherited mutant allele
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• mice with a paternally inherited mutant allele remain growth retarded at 12 weeks of age
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• growth retardation becomes more pronounced between E13.5 and E17.5 in mice with a paternally inherited mutant allele
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skeleton
• thinner and shorter bones in mice with a paternally inherited mutant allele
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• the bone is thinner but cortical bone thickness is increased and marrow cavity size is decreased in mice with a paternally inherited mutant allele
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• marrow cavity size is decreased in mice with a paternally inherited mutant allele
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• at 2, 3 and 12 months of age in mice with a paternally inherited mutant allele
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• the lamellar structure of the cortical bone is irregular and poorly formed, with poorly aligned osteocytes and incompletely formed lacunae in mice with a paternally inherited mutant allele
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• in mice with a paternally inherited mutant allele
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• in adult mice with a paternally inherited mutant allele
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• dense and disorganized trabeculae in the femurs of mice with a paternally inherited mutant allele at 3 months of age
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• adult mice with a paternally inherited mutant allele have reduced numbers of mesenchymal stem cells and osteoprogenitors
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• osteoblast colony forming units from mice with a paternally inherited mutant allele are smaller and contain cells with fewer contacts and less dense packing
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• in culture hematopoietic progenitors from mice with a paternally inherited mutant allele produce fewer large (greater than 10 nuclei) osteoclasts
• however, mutant cells transplanted into wild-type mice are able to form normal numbers of large osteoclasts
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• the number of chondrocyte colonies formed in E11.5 limb bud mesenchymal cell cultures from mice with a paternally inherited mutant allele is reduced and colonies that do form do so more slowly and have a less mature phenotype
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• in mice with a paternally inherited mutant allele
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embryo
• growth retardation is detectable as early as E10.5 in mice with a paternally inherited mutant allele
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limbs/digits/tail
• the bone is thinner but cortical bone thickness is increased and marrow cavity size is decreased in mice with a paternally inherited mutant allele
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hematopoietic system
• in culture hematopoietic progenitors from mice with a paternally inherited mutant allele produce fewer large (greater than 10 nuclei) osteoclasts
• however, mutant cells transplanted into wild-type mice are able to form normal numbers of large osteoclasts
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immune system
• in culture hematopoietic progenitors from mice with a paternally inherited mutant allele produce fewer large (greater than 10 nuclei) osteoclasts
• however, mutant cells transplanted into wild-type mice are able to form normal numbers of large osteoclasts
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