Analysis Tools
mortality/aging
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• mice die at birth
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skeleton
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• severe blunting of osteoblastogenesis, characterized by the persistence of a full unresorbed and mineralized cartilage enlagen throughout the midshaft of long bones
• the bone collar and primary ossification center do not form, suggesting early blunted osteoblast differentiation
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• cultured osteoblasts mineralize less than wild-type osteoblasts on day 7 and 14 of culture but are similar to wild-type by day 20
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• calvaria shows a reduction in the mineralization of parietal, frontal, and nasal regions
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• mandible is hypoplastic and hypomineralized
• however, the mandible Meckel cartilage appears normal
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• mandible is 25-50% shorter
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• osteoclasts are only present in the restricted wedge-like structure at the midshaft region compared to wild-type where they are abundant throughout the marrow space
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bowed radius
(
J:255349
)
bowed ulna
(
J:255349
)
bowed tibia
(
J:255349
)
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• clavicle is hypoplastic and hypomineralized, being 25-50% shorter
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• E17.5 humeri shaft shows almost complete absence of a marrow cavity and a wedge-like structure at the midshaft
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• enlargement of the hypertrophic chondrocyte zone
• however, no changes in the resting and proliferative regions are seen
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• E17.5 humeri exhibit a disorganized epiphyseal growth plate and shape
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• the mineralized dorsal aspect of the rib cage is thin and has a wavy appearance
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• wavy and thin dorsal ribs at E16.5
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• delay in marrow cavity formation, with E17.5 humeri shaft showing an almost complete absence of a marrow cavity
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• cortical bone formation is severely impaired
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• almost total absence of cortical bone in the tibia, with a medullary cavity filled with mineralized material
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• trabecular bone formation is severely impaired
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• long bones have little if any cortices and trabeculae and remain cartilaginous such that almost the entire length of the humerus bone is cartilaginous and show a delay in chondrocyte matrix resorption and marrow cavity formation
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• reduction of bone mineralization at E14.5 and E18.5, particularly in the mandible and head region
• hypomineralization of the skull bones at E16.5
• calvaria shows a reduction in the mineralization of parietal, frontal, and nasal regions
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• bones forming through an intramembranous process (mandible and clavicle) are affected
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cellular
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• severe blunting of osteoblastogenesis, characterized by the persistence of a full unresorbed and mineralized cartilage enlagen throughout the midshaft of long bones
• the bone collar and primary ossification center do not form, suggesting early blunted osteoblast differentiation
|
|
• cultured osteoblasts mineralize less than wild-type osteoblasts on day 7 and 14 of culture but are similar to wild-type by day 20
|
craniofacial
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• calvaria shows a reduction in the mineralization of parietal, frontal, and nasal regions
|
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• mandible is hypoplastic and hypomineralized
• however, the mandible Meckel cartilage appears normal
|
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• mandible is 25-50% shorter
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hematopoietic system
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• osteoclasts are only present in the restricted wedge-like structure at the midshaft region compared to wild-type where they are abundant throughout the marrow space
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homeostasis/metabolism
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• alkaline phosphatase activity is reduced within the primary spongiosia but is similar along the midshaft presumptive bone cortices
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immune system
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• osteoclasts are only present in the restricted wedge-like structure at the midshaft region compared to wild-type where they are abundant throughout the marrow space
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limbs/digits/tail
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• limbs are bent towards the abdomen at E18.5
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bowed radius
(
J:255349
)
bowed ulna
(
J:255349
)
bowed tibia
(
J:255349
)
short limbs
(
J:255349
)
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• forelimbs and hindlimbs are shorter
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | osteogenesis imperfecta type 5 | DOID:0110344 |
OMIM:610967 |
J:255349 |
