Analysis Tools
mortality/aging
skeleton
|
• at E15.5, no proliferating chondrocytes are observed at the center of the epiphysis or in the presumptive columnar zone in the humeri unlike in wild-type mice
|
|
• osteoblasts exhibit swelling of the endoplasmic reticulum unlike in wild-type cells
|
|
• at E13.5, hypertrophic chondrocytes are smaller than in wild-type mice
• at E13.5, proliferating chrondrocytes are larger than in wild-type mice
• at E15.5, chondrocytes fail to form an organized columnar growth zone compared with wild-type mice
• the chondrocyte hypertrophic differentiation is delayed compared to in wild-type mice and absent at E18.5
• chondrocytes exhibit swelling of the endoplasmic reticulum and abnormal golgi unlike in wild-type cells
|
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• intramembranous and endochondral bone mineralization is delayed compared to in wild-type mice
|
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• mice lack vertebral-body ossification unlike wild-type mice
|
|
• at E15.5, chondrocytes produce less extracellular matrix compared to wild-type cells
• at E15.5, no proliferating chondrocytes are observed at the center of the epiphysis or in the presumptive columnar zone in the humeri unlike in wild-type mice
• at E17.5, apoptotic chondrocytes are detected in the humeri unlike in wild-type mice
|
cellular
|
• mice exhibit swelling of the endoplasmic reticulum (ER) in the chondrocytes and osteoblasts unlike in wild-type cells
• however, the ER of other cells is normal
|
|
• post-translational protein processing and secretion in primary skin fibroblasts is impaired compared to in wild-type cells
|
respiratory system
|
• alveolar formation in the lungs is decreased compared to in wild-type mice
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growth/size/body
short snout
(
J:163656
)
omphalocele
(
J:163656
)
craniofacial
short snout
(
J:163656
)
limbs/digits/tail
short limbs
(
J:163656
)
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| achondrogenesis type IA | DOID:0080054 |
OMIM:200600 |
J:163656 | |
