Analysis Tools
mortality/aging
|
• mortality of mutant mice was approximately 50% from birth to P21
• most mutant mice died before 6 months of age
|
cellular
|
• in primary cultures of fibroblasts, chondrocytes, and osteoblasts, sulfate uptake was reduced
• in tissues, amount of non-sulfated disaccharide was higher in cartilage and bone but not in skin
|
|
• in primary chondrocyte cultures, BrdU incorporation was reduced
|
craniofacial
|
• overgrowth of the mandible relative to the maxilla, resulting in bite overclosure
|
growth/size/body
|
• at age P60, approximately 60% reduction in body weight compared to control
|
limbs/digits/tail
bowed tibia
(
J:97104
)
|
• at birth, bending of the tibia was present
|
skeleton
|
• overgrowth of the mandible relative to the maxilla, resulting in bite overclosure
|
bowed tibia
(
J:97104
)
|
• at birth, bending of the tibia was present
|
|
• cell death in the hypertrophic zone as determined by TUNEL assay was reduced
|
|
• in the tibial and femoral epiphysis of P1 to P60 mice, chondrocyte size was variable with many smaller cells
|
|
• by P60, shortening of long bones and tubular bones were observed
|
osteoporosis
(
J:97104
)
|
• the long bones were osteoporotic
• epiphyseal and metaphyseal trabecular structure were thinner, fewer and poorly connected to each other
|
|
• degeneration and fragmentation of articular cartilage of the knee joints and hypertrophy of the synovia
|
|
• the formation of the secondary ossification center of the proximal epiphysis from the tibia was delayed
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| diastrophic dysplasia | DOID:14687 |
OMIM:222600 |
J:97104 | |
