Analysis Tools
behavior/neurological
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• severely impaired gait pattern
• posterior placement of forelimbs and uncoordinated limb placement
• at 3 months of age gait regularity is substantially decreased
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cellular
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• more than 50% reduction in the number of BrdU+ cells in calvarial sections of newborns indicating decreased proliferation of osteoblast progenitor cells
• cultured osteoblasts show impaired proliferation and bone matrix formation
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muscle
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• decrease in mean fiber area in the muscles attached to the spine
• however, no left vs right side differences are seen
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growth/size/body
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• dwarfism
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skeleton
| N |
• developing spines show no gross abnormalities
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• more than 50% reduction in the number of BrdU+ cells in calvarial sections of newborns indicating decreased proliferation of osteoblast progenitor cells
• cultured osteoblasts show impaired proliferation and bone matrix formation
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• small skeleton
• bones show 41% and 34% decreases in thickness and total section area, respectively, at 3 weeks of age
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• the intramembranous skull bones are softer than in wild-type mice at E18.5
• diminution of bone tissue in skulls
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• calvaria are reduced in size
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• reduction in femoral width, with a 50% smaller bone cortex area than wild-type mice at 3 weeks of age
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• clavicles are softer than in wild-type mice at E18.5
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• short long bones in 3 week old mice
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• humeri are 15% shorter at 1 day of age
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short femur
(
J:224290
)
|
• femurs are 19% shorter in 3 week old mice
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• 19 of 20 mice show scoliosis at P90 with a curve range between 12 and 71 degrees
• most commonly this is seen as a major thoracic curve accompanied by smaller curves rostrally and caudally
• in 16 of 19 mice the apex of the major curve is right-sided and located between spinal levels T8 and T10
• curvature is seen in only a single mouse at P40 but is present by P60
• curvature worsens between P60 and P90 and more slowly after P90
• bend is to the right of the coronal plane
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• cortices of 3 week old mice show a 58% reduction in bone mineral content
• 59% decrease in trabecular bone mineral content at 3 weeks of age
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• cortices of 3 week old mice show osteopenia, including 14% and 58% reductions in bone mineral density and bone mineral content, respectively
• osteopenia is congenital, with delayed ossification seen at E14.5
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• osteopenia is seen in the cancellous region of the femur, with a decrease in trabecular bone mineral density (28%) and trabecular bone mineral content (59%) compared to wild-type mice at 3 weeks of age
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• long bones show reduced cortical thickness at 3 weeks of age
|
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• however, osteoclast numbers are normal
• 38% and 34% reduction in the surface osteoblast/bone surface ratio and in the number of osteoblasts/bone perimeter, respectively, indicating reduced osteoblast numbers
|
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• long bones show underdeveloped trabecular regions at 3 weeks of age
|
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• osteopenia is also seen in the cancellous region of the femur, with decreases in trabecular thickness (22%), trabecular bone mineral density (28%), and trabecular bone mineral content (59%) compared to wild-type mice at 3 weeks of age
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• lower bone mass, with a 38% decrease in bone volume/total volume
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• complete lack of bone material is seen at E14.5, the earliest time point of bone appearance, compared to wild-type which show bulk calcification in the bone collar and primary spongiosa regions, however, mineral deposits are seen at E16.5, indicating delayed osteogenesis which commences by around E16.5
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• 19% decrease in the mineral apposition rate and a reduction of the mineralizing surface/bone surface and the bone formation rate of 59% and 68%, respectively
• mice show diminished mineralization of intramembranous bones
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• perinatal intramembranous ossification deficits
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• E18.5 mutants show delayed ossification of the hind- and forelimb distal bones, the mandible (angular process), and skull and is seen as early as E16.5
• by 7 days of age, mice show a normal ossification pattern even though the skeleton is smaller
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• decrease in bone rigidity, with mice showing a 33% reduction in Youngs modulus, a size-corrected measure of bone material rigidity
|
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• bone strength of intramembranous bones (frontal bones and clavicles) are reduced
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limbs/digits/tail
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• humeri are 15% shorter at 1 day of age
|
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• reduction in femoral width, with a 50% smaller bone cortex area than wild-type mice at 3 weeks of age
|
short femur
(
J:224290
)
|
• femurs are 19% shorter in 3 week old mice
|
craniofacial
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• the intramembranous skull bones are softer than in wild-type mice at E18.5
• diminution of bone tissue in skulls
|
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• calvaria are reduced in size
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| idiopathic scoliosis | DOID:0060250 | J:243559 | ||
