Analysis Tools
limbs/digits/tail
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• distal bones are disproportionately shorter (acromelic dysplasia)
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• all forelimb bones are reduced in length and the diaphyseal and metaphyseal regions of forelimb bones are wider
• hind limb bones are shorter and their diaphyseal and metaphyseal regions are wider
• in mice older than 9 months, bone shortening persists in metatarsals and the tibia, but not in the forelimb (metacarpals, humerus, radius, ulna)
• however, no abnormalities in the growth plate are seen and no difference in collagens or proteoglycans are seen
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short radius
(
J:280264
)
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• radii are shorter at birth but this shortening does not persist in mice older than 9 months
• however, no differences in the length of metacarpals and the ulna are seen at P0
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short tibia
(
J:280264
)
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• short tibia in P18 mice and bone shortening persists in the tibia in mice older than 9 months of age
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• metatarsals are shorter at birth and this bone shortening persists in mice older than 9 months
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muscle
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• Achilles tendon is shorter and wider and its origin from the gastrocnemius is poorly defined
• Achilles tendons are tethered to surrounding tissue, similar to severe peri-tendon fibrosis
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disorganization of linear tenocyte arrays
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• shape of tenocytes is irregular
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• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disarray of collagen fiber orientation, with no changes in the directionality but an increase in the dispersion, indicating a wider range of directional angles
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skeleton
|
• all forelimb bones are reduced in length and the diaphyseal and metaphyseal regions of forelimb bones are wider
• hind limb bones are shorter and their diaphyseal and metaphyseal regions are wider
• in mice older than 9 months, bone shortening persists in metatarsals and the tibia, but not in the forelimb (metacarpals, humerus, radius, ulna)
• however, no abnormalities in the growth plate are seen and no difference in collagens or proteoglycans are seen
|
short radius
(
J:280264
)
|
• radii are shorter at birth but this shortening does not persist in mice older than 9 months
• however, no differences in the length of metacarpals and the ulna are seen at P0
|
short tibia
(
J:280264
)
|
• short tibia in P18 mice and bone shortening persists in the tibia in mice older than 9 months of age
|
|
• metatarsals are shorter at birth and this bone shortening persists in mice older than 9 months
|
|
• Achilles tendon is shorter and wider and its origin from the gastrocnemius is poorly defined
• Achilles tendons are tethered to surrounding tissue, similar to severe peri-tendon fibrosis
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disorganization of linear tenocyte arrays
|
|
• shape of tenocytes is irregular
|
|
• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon
• tendons show disarray of collagen fiber orientation, with no changes in the directionality but an increase in the dispersion, indicating a wider range of directional angles
|
|
• P16-P20 long bone diaphysis are less sculpted, lacking the characteristic narrowing in the central regions of the diaphysis and have a stubby appearance, most noticeable in the metacarpals and metatarsals
• - the diaphyseal regions of forelimb and hind limb bones are wider
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• the metaphyseal regions of forelimb and hind limb bones are wider
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| geleophysic dysplasia 1 | DOID:0111725 |
OMIM:231050 |
J:280264 | |
