Analysis Tools
growth/size/body
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• loss of bone around teeth is seen at 10 weeks of age
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mortality/aging
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• impaired survival with age with only about 28% of homozygotes surviving to 30 weeks of age
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skeleton
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• reduced bone volume is seen at 10 weeks of age
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• reduced cortical bone thickness is seen at 10 weeks of age
• jaws display increased numbers of osteoclasts at 10 weeks of age
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• loss of bone around teeth is seen at 10 weeks of age
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• bone loss is detected in the long bones
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• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells
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• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts
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• decreased bone mineral density in the long bones at 10 weeks of age
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• reduced trabecular bone volume, trabecular number, and to a lesser extent trabecular thickness are seen in long bones
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• pitting of the cortical surface is seen particularly at the distal ends of limb bones
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• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoblasts
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• increase in resorptive activity on dentin slices compared to wild-type cells
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• in some mice infiltrates fill the synovial space of large joints and penetrate through the articular cartilage and underlying bone into the bone marrow
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• inflammatory lesions in the cortical regions of the long bones, maxilla, palate, and mandible
• cystic lesions are seen in the bones
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immune system
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• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells
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• increase in the proportion of B cells in the lymph nodes, bone marrow, and spleen
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• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts
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• peritoneal macrophages from 10 week old mice display an increase in the proportion oc cells expressing TNF
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• increase in resorptive activity on dentin slices compared to wild-type cells
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• serum levels of TNF are elevated to between 200 to 700 pg/ml while levels in wild-type and heterozygous mice are undetectable
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• increase in the size of the red pulp region
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• enlarged with increase in the size of medullary regions
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• swelling of the facial soft tissue resulting from inflammatory lesions
• infiltrates are macrophage rich and contain tartrate-resistant acidic phosphatase positive cells
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• mice develop mild gastritis at 2 weeks of age
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• spinal inflammation is observed at 7 weeks of age
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blepharitis
(
J:117880
)
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• develop swollen eyelids resulting from inflammatory lesions starting around 6 weeks of age and this persists in mice until at least 30 weeks of age
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• in some mice infiltrates fill the synovial space of large joints and penetrate through the articular cartilage and underlying bone into the bone marrow
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• inflammation of the liver, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age
• at 2 weeks of age mice develop more severe liver inflammation
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• inflammation of the muscle and soft tissue associated with the craniofacial and long bones
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• inflammatory lesions in the cortical regions of the long bones, maxilla, palate, and mandible
• cystic lesions are seen in the bones
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• inflammation of the lung, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age
• at 2 weeks of age mice develop more severe lung inflammation
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dermatitis
(
J:117880
)
homeostasis/metabolism
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• serum levels of TNF are elevated to between 200 to 700 pg/ml while levels in wild-type and heterozygous mice are undetectable
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• elevated serum levels of tartrate-resistant acidic phosphatase
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vision/eye
blepharitis
(
J:117880
)
|
• develop swollen eyelids resulting from inflammatory lesions starting around 6 weeks of age and this persists in mice until at least 30 weeks of age
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liver/biliary system
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• inflammation of the liver, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age
• at 2 weeks of age mice develop more severe liver inflammation
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muscle
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• inflammation of the muscle and soft tissue associated with the craniofacial and long bones
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digestive/alimentary system
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• mice develop mild gastritis at 2 weeks of age
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hematopoietic system
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• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells
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• increase in the proportion of B cells in the lymph nodes, bone marrow, and spleen
|
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• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts
|
|
• increase in the size of the red pulp region
|
|
• peritoneal macrophages from 10 week old mice display an increase in the proportion oc cells expressing TNF
|
|
• increase in resorptive activity on dentin slices compared to wild-type cells
|
nervous system
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• spinal inflammation is observed at 7 weeks of age
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craniofacial
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• reduced bone volume is seen at 10 weeks of age
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• reduced cortical bone thickness is seen at 10 weeks of age
• jaws display increased numbers of osteoclasts at 10 weeks of age
|
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• loss of bone around teeth is seen at 10 weeks of age
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respiratory system
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• inflammation of the lung, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age
• at 2 weeks of age mice develop more severe lung inflammation
|
integument
dermatitis
(
J:117880
)
cellular
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• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cherubism | DOID:1856 |
OMIM:118400 |
J:117880 | |
