Mouse Genome Informatics
cn
    Ext1tm1Yama/Ext1tm1Yama
Tg(Col2a1-cre/ERT)KA3Smac/0

involves: 129S5/SvEvBrd * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• without tamoxifen treatment, mice exhibit multiple hereditary exostose-like skeletal defects unlike wild-type mice
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice
• in 58% of mice
• mice exhibit bony protrusions with a cartilage cap in the wrist, fibula, shoulder, and rib unlike wild-type mice
• at P14, mice exhibit exostosis unlike wild-type mice
• at P28, mice exhibit multiple protrusions closely resembling osteochondroma unlike in wild-type mice
• mice exhibit mild abnormalities of the joint cartilage unlike wild-type mice
• at P14,formation of cartilage occurs in abnormal location compared to in wild-type mice
• at P21, mice exhibit overgrowth and deformity of the cartilage compared with wild-type mice and small cartilaginous islands for in the epiphysis
• mild
• at P21, mice exhibit small cartilaginous islands for in the epiphysis unlike in wild-type mice

tumorigenesis
• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice
• at P7 to P28 in the ribs
• at P14 in the distal femur
• osteochondromas resemble ectopic growth plates rather than true neoplasm

growth/size

limbs/digits/tail
• mice exhibit bowing of the forearm unlike wild-type mice
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Exostoses, Multiple, Type I 133700 J:161395