Analysis Tools
skeleton
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• marker analysis during vertebral development shows that proliferating and prehypertrophic chondrocytes are expanded not only in the adjacent regions of hypertrophic cells, but also in other regions, even those adjacent to the nucleus pulposus cells, suggesting increased cell proliferation and delayed differentiation prior to hypertrophy
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• crab-like appearance of the thoracic cage with proximally fused ribs and pebble beach sign of round or ovoid vertebral bodies
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rib fusion
(
J:193853
)
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• proximally fused ribs
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• spatial segregation of intervertebral and vertebral primordia in the sclerotomal cell population is affected
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• the population of cells that cover the fused vertebral bodies are similar to presumptive annulus fibrous cells, suggesting a fused population of the annulus fibrous cells
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• developing mice exhibit disrupted alternative metameric patterning of the intervertebral and vertebral tissues indicating disrupted spatial organization of vertebral tissues
• the layered structure of the vertebral primordium is severely disrupted with morphologically distinct cells being intermingled
• ossification is delayed in vertebrae
• however, no differences in in bone formation of the pedicle of the vertebral arch are seen
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• at E16.5, the presumptive intervertebral disc regions do not fully intercalate the vertebral body regions, and instead are mostly fused anterior-posteriorly in the marginal regions of the cartilaginous column
• intervertebral tissue is ectopically formed and largely fused in the peripheral region of the developing spine, rather than exhibiting an expanded formation
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• round or ovoid vertebral bodies
• fused vertebral bodies show intermingled arrangement of chondrogenic cells at distinct differentiation levels
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• E18.5 vertebral body sections show a delay in hypertrophic cartilage mineralization and ossification, with no obvious bone development although a mineralized bone collar embedding several osteocytes is well formed adjacent to the mineralized cartilage
• CT analysis shows a smaller amount of mineral deposition and mineralized areas, and a lower mineral density specifically in the vertebral bodies
• cartilage tissues of vertebral bodies at E18.5 have several small ossification centers of hypertrophic chondrocytes compared to a single large ossification center in wild-type mice
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• cartilage tissues of vertebral bodies are extensively fused at the lumbar level at E18.5 with rare insertions of intervertebral tissue
• extensive fusion of developing vertebral bodies is especially obvious in the thoracic and lumbar regions at E16.5
• cartilaginous vacuoles appear to be smaller and are occasionally fused
• fused vertebral bodies exhibit small, amorphous and randomly arranged ossifications instead of forming longitudinally extended or fused ossification centers
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• marker analysis during vertebral development shows that proliferating and prehypertrophic chondrocytes are expanded not only in the adjacent regions of hypertrophic cells, but also in other regions, even those adjacent to the nucleus pulposus cells, suggesting increased cell proliferation and delayed differentiation prior to hypertrophy
• chondrogenic maturation of vertebral body is delayed
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• ossification is delayed in vertebrae and loss of ossification is seen in the vertebral bone collar
• ossification centers are occasionally seen even in the marginal areas of vertebral columns and in areas adjacent to the notochord which are not seen in wild-type mice
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cellular
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• marker analysis during vertebral development shows that proliferating and prehypertrophic chondrocytes are expanded not only in the adjacent regions of hypertrophic cells, but also in other regions, even those adjacent to the nucleus pulposus cells, suggesting increased cell proliferation and delayed differentiation prior to hypertrophy
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spondylocostal dysostosis 2 | DOID:0112362 |
OMIM:608681 |
J:193853 | |
