Analysis Tools
mortality/aging
|
• mojority of homozygotes die by 6 months of age likely from TMJ ankylosis and at late stage of disease appear exhausted and thin
|
craniofacial
skeleton
|
• between 12 and 20 days of age no structural abnormalities in the joints but by 1.5 months of age osteophyte development within the joint space adjacent to the margin of the synovial and cartilage junctions with progressive narrowing of the joint space
• degradation of articular cartilage with signs of regeneration, hyperplasticity of synovial cells lining the joints
• subchondral cyst formation
• abnormally robust vascularization in diseased joints
• osteophyte formation appears to derive from proliferation of mesenchymal progenitor cells followed by differentiation into chondrocytes
• early onset degenerative joint disease with enlargement and deformity of multiple joints particularly knee, ankle, and temporal-mandibular joint
|
immune system
|
• between 12 and 20 days of age no structural abnormalities in the joints but by 1.5 months of age osteophyte development within the joint space adjacent to the margin of the synovial and cartilage junctions with progressive narrowing of the joint space
• degradation of articular cartilage with signs of regeneration, hyperplasticity of synovial cells lining the joints
• subchondral cyst formation
• abnormally robust vascularization in diseased joints
• osteophyte formation appears to derive from proliferation of mesenchymal progenitor cells followed by differentiation into chondrocytes
• early onset degenerative joint disease with enlargement and deformity of multiple joints particularly knee, ankle, and temporal-mandibular joint
|
behavior/neurological
|
• as early as 1 month of age
|
cardiovascular system
|
• in diseased joints
|
renal/urinary system
| N |
• no pathological changes or defects detected
|
liver/biliary system
| N |
• no pathological changes or defects detected
|
hematopoietic system
endocrine/exocrine glands
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteoarthritis | DOID:8398 | J:100927 | ||
