Analysis Tools
behavior/neurological
|
• severely impaired gait pattern
• posterior placement of forelimbs and uncoordinated limb placement
• at 3 months of age gait regularity is substantially decreased
|
cellular
|
• 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
|
muscle
|
• decrease in mean fiber area in the muscles attached to the spine
• however, no left vs right side differences are seen
|
growth/size/body
|
• dwarfism
|
skeleton
| N |
• developing spines show no gross abnormalities
|
|
• 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
|
|
• small skeleton
• bones show 41% and 34% decreases in thickness and total section area, respectively, at 3 weeks of age
|
|
• the intramembranous skull bones are softer than in wild-type mice at E18.5
• diminution of bone tissue in skulls
|
|
• calvaria are reduced in size
|
|
• reduction in femoral width, with a 50% smaller bone cortex area than wild-type mice at 3 weeks of age
|
|
• clavicles are softer than in wild-type mice at E18.5
|
|
• short long bones in 3 week old mice
|
|
• humeri are 15% shorter at 1 day of age
|
short femur
(
J:224290
)
|
• femurs are 19% shorter in 3 week old mice
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• long bones show reduced cortical thickness at 3 weeks of age
|
|
• 38% and 34% reduction in the surface osteoblast/bone surface ratio and in the number of osteoblasts/bone perimeter, respectively, indicating reduced osteoblast numbers
• however, osteoclast numbers are normal
|
|
• long bones show underdeveloped trabecular regions at 3 weeks of age
|
|
• 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
|
|
• lower bone mass, with a 38% decrease in bone volume/total volume
|
|
• 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
|
|
• 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
|
|
• perinatal intramembranous ossification deficits
|
|
• 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
|
|
• decrease in bone rigidity, with mice showing a 33% reduction in Youngs modulus, a size-corrected measure of bone material rigidity
|
|
• bone strength of intramembranous bones (frontal bones and clavicles) are reduced
|
limbs/digits/tail
|
• humeri are 15% shorter at 1 day of age
|
|
• 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
|
• the intramembranous skull bones are softer than in wild-type mice at E18.5
• diminution of bone tissue in skulls
|
|
• calvaria are reduced in size
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| idiopathic scoliosis | DOID:0060250 | J:243559 | ||
