mortality/aging
• all mice die within 6 hours of birth due to respiratory distress
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skeleton
• mice exhibit short facial bones
• however, cranial bones are normal
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• phalanges 2 and 3 are absent from both fore- and hindlimbs
• however, ossification of the calcaneus, first phalanges and metatarsals occurs normally
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• the talus is ossified unlike in wild-type
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• long bones are increased in width
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short ilium
(
J:128547
)
• the iliac is decreased in length compared to wild-type
|
wide ilium
(
J:128547
)
• the iliac is increased in width compared to wild-type
|
• at E18.5, mice possess small rib cages
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• at E18.5, mice have kinked vertebral columns
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• vertebrae are misshapen with poorly formed dorsal arches
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• vertebrae are misshapen with poorly formed dorsal arches
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• at E18.5, cartilage staining by Alcian Blue is decreased compared to in wild-type mice
• unlike in wild-type mice, the extracellular matrix surrounding chondrocytes contains extensive fibrillations
• however, early cartilage development is normal
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• growth plates are disturbed, severely shortened, disorganized and hypocellular
• the bone collar is increased in thickness
• chondroitin sulfation balance and chondroitin sulfate spatial distribution are disrupted
• mice exhibit a 2-fold increase in proliferation in the proliferative and columnar zones compared to wild-type
• unlike in wild-type mice, apoptotic cells are present in all zones of the growth plate
• however, explants of metatarsal growth plates retain the capacity to respond to exogenous growth factors in culture
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• the chondrocyte zone and in particular the columnar and hypertrophic zones are reduced in size
• there is a 3.5-fold increase in apoptotic cells in the hypertrophic zone compared to in wild-type
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respiratory system
growth/size/body
• mice exhibit severe dwarfism at birth
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limbs/digits/tail
• phalanges 2 and 3 are absent from both fore- and hindlimbs
• however, ossification of the calcaneus, first phalanges and metatarsals occurs normally
|
• the talus is ossified unlike in wild-type
|
short limbs
(
J:128547
)
craniofacial
• mice exhibit short facial bones
• however, cranial bones are normal
|