• mice die immediately after birth
|
• mice make feeble attempts to breathe
|
• long bones are shorter, thicker, and deformed with mildy splayed ends
|
• irregular metaphyseal margins in the long bones
|
• the thoracic cage is narrow and bell-shaped
|
• smaller in height and exhibit advanced ossification involving both the vertebral bodies and the articular processes
|
• bony trabeculae of the primary spongiosa are shortened and distorted
|
• zone of resting chondrocytes and the zones of proliferation and maturation are shortened, however the numbers of multinucleated chondroclasts and osteoclasts are normal
|
• columns of proliferating chondrocytes are shorter and irregularly arranged
|
• cartilage primorida of the ulna and radious are deformed and shortened at E14.5 but not at E12.5
|
• exhibit osteochondrodysplasia
|
• excessive/advanced mineralization
|
• exhibit acceleration of the normal endochondral ossification process and also abnormal maturation of hyaline rib chondrocytes with associated perichondral ossification
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
achondroplasia | DOID:4480 |
OMIM:100800 |
J:16911 | |
pseudohypoparathyroidism type 1A | DOID:0080053 |
OMIM:103580 |
J:16911 |