Analysis Tools
skeleton
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• mice at 3 months of age exhibit increased radiopacity of craniofacial bones
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• mice exhibit thickening of skull bones
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• mice exhibit narrowed neural foramina at the cranial base
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• thickened calvariae
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• mice show jawbone thickening, with increased bone volume, total volume, and bone volume/total volume ratio
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• mice at 3 months of age exhibit increased alveolar bone mass and thickened mandibular alveolar bone
• however, mice have normal tooth eruption and positioning of cervical loops
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• mice at 3 months of age exhibit club-shaped femurs with thickened diaphyseal cortical bone
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long femur
(
J:386099
)
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• males exhibit increased femur length
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• hypersclerotic diaphyseal cortical bone in femurs
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• mice exhibit widened, flared femur metaphysis
• however, no differences in metaphyseal measurements of the femur are seen, such as trabecular bone mass, trabecular number, trabecular spacing, or trabecular thickness
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• mice have increased sub-periosteal and sub-endosteal area
• cortical bones of the mid-diaphyseal region of femurs exhibit increased TRAP+ cells on the endosteal surface and very little on periosteum indicating an opposite location pattern of bone forming cells and TRAP+ cells in mutants compared to wild-type mice
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• mandibles and femurs exhibit increased bone volume, total volume, and bone mineral density in mandibles and femurs
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• increase in cortical diaphyseal porosity
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• cortical bone thickening in the diaphysis
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• increase in cortical thickness
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• the lacunar area of osteocytes is increased due to increased perilacunar space but the cell body area is normal
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• dendrites of osteocytes in diaphyseal cortical bone are reduced in number and length
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• mice show increased bone mass in craniofacial bones and diaphyseal cortical bones but no changes in vertebrae nor metaphyseal trabecular bones
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• mice show increased bone mass in diaphyseal cortical bones
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hyperostosis
(
J:386099
)
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• mice progressively develop bone overgrowths in multiple sites of craniofacial and long bones, including but not limited to, femurs and mandibles
• females present with more prominent skeletal abnormalities with aging
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• diaphyseal cortical bones show active bone formation on the periosteal surface unlike in wild-type mice which show it on the endosteal surface, with the mineralizing surface/bone surface (MS/BS), mineral apposition rate (MAR), and bone formation rate (BFR) increased in the periosteum but decreased in the endosteum
• females exhibit increased MAR in the periosteum in areas of bone overgrowths, suggesting that more bone deposition occurs in females
• serum levels of P1NP, a marker for bone formation, are increased at 8 months but not 3 months of age in females
• however, no differences in mineral apposition rate (MAR), bone formation rate (BFR), osteoblast surface (including bone forming and bone lining surfaces , osteoclast surface including bone resorbing surface and bone remodeling surface in femoral metaphyses are seen and serum levels of CTX, a marker for bone resorption, are normal
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• the mineralizing surface/bone surface (MS/BS) and mineral apposition rate (MAR) are increased in the periosteum and are decreased in the endosteum
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• females exhibit increased osteoclast surface and bone remodeling unit surface than male mice
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• calvarial osteoblasts grown in osteogenic differentiation medium show increased proliferation but comparable apoptosis and mineral nodule formation to wild-type cells
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• bone marrow-derived macrophages plated on bone chips show a reduction of the resorptive activity of active osteoclasts in the bone resorption pit assay
• reduction in numbers of active osteoclasts form on bone chips from bone marrow-derived macrophages
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craniofacial
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• mice at 3 months of age exhibit increased radiopacity of craniofacial bones
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|
• mice exhibit thickening of skull bones
|
|
• mice exhibit narrowed neural foramina at the cranial base
|
|
• thickened calvariae
|
|
• mice show jawbone thickening, with increased bone volume, total volume, and bone volume/total volume ratio
|
|
• mice at 3 months of age exhibit increased alveolar bone mass and thickened mandibular alveolar bone
• however, mice have normal tooth eruption and positioning of cervical loops
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growth/size/body
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• mice show jawbone thickening, with increased bone volume, total volume, and bone volume/total volume ratio
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• mice at 3 months of age exhibit increased alveolar bone mass and thickened mandibular alveolar bone
• however, mice have normal tooth eruption and positioning of cervical loops
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hematopoietic system
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• bone marrow-derived macrophages plated on bone chips show a reduction of the resorptive activity of active osteoclasts in the bone resorption pit assay
• reduction in numbers of active osteoclasts form on bone chips from bone marrow-derived macrophages
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immune system
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• bone marrow-derived macrophages plated on bone chips show a reduction of the resorptive activity of active osteoclasts in the bone resorption pit assay
• reduction in numbers of active osteoclasts form on bone chips from bone marrow-derived macrophages
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limbs/digits/tail
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• increase in cortical thickness
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• mice at 3 months of age exhibit club-shaped femurs with thickened diaphyseal cortical bone
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long femur
(
J:386099
)
|
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• males exhibit increased femur length
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cellular
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• calvarial osteoblasts grown in osteogenic differentiation medium show increased proliferation but comparable apoptosis and mineral nodule formation to wild-type cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive craniometaphyseal dysplasia | DOID:0080802 |
OMIM:218400 |
J:386099 | |
