Analysis Tools
growth/size/body
skeleton
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• serum crosslaps, representing C-telopeptide fragments of type-I collagen being released from the bone matrix through osteoclasts, are increased, indicating increased osteoclast activity
• osteoclasts hypersecrete newly synthesized lysosomal hydrolases ex vivo, however, they do not exhibit any functional abnormalities
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• all bones of one week old mutants are smaller, however no defects of skeletal patterning are seen
• lysosomal storage vacuoles are seen in the outer fibrous layer of the periosteum, in bone-forming osteoblasts, and in terminally differentiated osteocytes
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• increase in osteoclastogenesis, with the number of osteoclasts per bone perimeter increased more than 4-fold at 4 and 12 weeks of age
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• wide diaphysis
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• lumbar spine length is reduced in 4 and 12 week old mutants
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• results from reduced bone formation and increased bone resorption
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• trabecular bone volume is reduced, however no enrichment of non-mineralized osteoid
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• increase of cortical porosity
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• accumulation of storage material in lysosomes of osteoblasts
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• osteoblast number is similar to wild-type at 4 weeks of age and slightly reduced at 12 weeks of age
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• accumulation of storage material in lysosomes of osteocytes
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• low bone mass at 4 and 12 weeks of age
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osteoporosis
(
J:202751
)
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• lucent storage vacuoles in the chondrocytes of the prehypertrophic growth plates
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• bone formation rate is decreased in 4 and 12 week old mutants
• treatment with alendronate, a bisphosphonate, increases bone mass, trabecular bone volume, normalizes biomechanical stability of vertebral bodies, and reduces the rate of bone resorption
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• differentiation of osteoblasts is impaired which is associated with increased interleukin-6 production
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• widening of growth plates in non-decalcified spine and tibia
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• results from increased osteoclastogenesis
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cellular
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• differentiation of osteoblasts is impaired which is associated with increased interleukin-6 production
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• lysosomal dysfunction
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immune system
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• increase in osteoclastogenesis, with the number of osteoclasts per bone perimeter increased more than 4-fold at 4 and 12 weeks of age
|
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• serum crosslaps, representing C-telopeptide fragments of type-I collagen being released from the bone matrix through osteoclasts, are increased, indicating increased osteoclast activity
• osteoclasts hypersecrete newly synthesized lysosomal hydrolases ex vivo, however, they do not exhibit any functional abnormalities
|
homeostasis/metabolism
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• serum crosslaps, representing C-telopeptide fragments of type-I collagen being released from the bone matrix through osteoclasts, are increased
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hematopoietic system
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• increase in osteoclastogenesis, with the number of osteoclasts per bone perimeter increased more than 4-fold at 4 and 12 weeks of age
|
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• serum crosslaps, representing C-telopeptide fragments of type-I collagen being released from the bone matrix through osteoclasts, are increased, indicating increased osteoclast activity
• osteoclasts hypersecrete newly synthesized lysosomal hydrolases ex vivo, however, they do not exhibit any functional abnormalities
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| mucolipidosis II alpha/beta | DOID:0080070 |
OMIM:252500 |
J:202751 | |
