Analysis Tools
cardiovascular system
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• delay in blood vessel formation in bones at E11
• mice injected with anti-Fgf23 antibodies show rescue of the delay
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homeostasis/metabolism
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• mild hypocalcemia
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• severe hypophosphatemia
(J:115339)
• mice injected with anti-Fgf23 antibodies show restoration of phosphate levels
(J:184352)
|
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• elevation in serum Fgf23 levels
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cellular
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• osteoblasts continuously express osteoblast-specific genes and fail to differentiate into mature osteocytes
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renal/urinary system
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• increase in renal phosphorous clearance
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skeleton
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• the number of osteoclasts formed in bone marrow cultures in the presence of 1,25-(OH)2D3 is less than 50% of that in control
• marker analysis indicates a reduction in osteoclasts in long bone in both the epiphysis and metaphysis at 2 weeks of age
• however, the number of osteoclasts formed by spleen cells is normal, indicating that osteoclast precursors can differentiate normally
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• expansion of the metaphysis
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• abnormalities in cortical bone
• mice treated with anti-Fgf13 antibodies show improvement in cortical bone abnormalities
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• defective organization of osteocyte lacunae and lacunocanalicular walls
• the inner lacunocanalicular wall is buckled and enlarged rather than smooth in the poorly mineralized matrix, unmineralized collagen fibrils are seen, the lamina limitans is absent, and the membrane surface is buckled and irregular
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• marker analysis indicates defective osteoblast-to-osteocyte differentiation and osteocyte maturation
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• osteocyte lacunae are larger and randomly oriented
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• increase in accumulation of trabecular bone in the bone marrow space
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• osteoblasts continuously express osteoblast-specific genes and fail to differentiate into mature osteocytes
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• rachitic rosary of the ribs
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osteomalacia
(
J:115339
)
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• mice exhibit defects in bone mineralization showing diffuse, osteomalacic form of mineralization; develops with age
• mineral content is either missing or sparsely located in regions surrounding osteocytes
• spherical structures reminiscent of calculospherulites are present
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• mice develop rickets with age, showing, showing flared ends of long bones and rachitic rosary of the ribs
• high-phosphate diet rescues the rickets but not the osteomalacia
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• delay in formation of secondary ossification centers that is mainly due to hypophosphatemia
• mice injected with anti-Fgf23 antibodies show rescue of secondary ossification defects in vertebrae and femoral bone
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• cartilage is remodeled less in 3 day old forelimbs than in controls
• mice at 1 year of age show development of large bony protuberances in all bones, suggesting abnormal bone remodeling processes with age
• bone remodeling abnormalities are due to altered osteoblast function and a reduction of the number of osteoclasts
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hematopoietic system
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• the number of osteoclasts formed in bone marrow cultures in the presence of 1,25-(OH)2D3 is less than 50% of that in control
• marker analysis indicates a reduction in osteoclasts in long bone in both the epiphysis and metaphysis at 2 weeks of age
• however, the number of osteoclasts formed by spleen cells is normal, indicating that osteoclast precursors can differentiate normally
|
immune system
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• the number of osteoclasts formed in bone marrow cultures in the presence of 1,25-(OH)2D3 is less than 50% of that in control
• marker analysis indicates a reduction in osteoclasts in long bone in both the epiphysis and metaphysis at 2 weeks of age
• however, the number of osteoclasts formed by spleen cells is normal, indicating that osteoclast precursors can differentiate normally
|
|
• delay in bone marrow formation at E11
• mice injected with anti-Fgf23 antibodies show accelerated bone marrow formation in the femur epiphysis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive hypophosphatemic rickets | DOID:0050949 |
OMIM:241520 OMIM:613312 |
J:184352 | |
