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Phenotypes Associated with This Genotype
Genotype
MGI:4818630
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic
Background
involves: 129S5/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (20 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• without tamoxifen treatment, mice exhibit multiple hereditary exostose-like skeletal defects unlike wild-type mice (J:161395)
• without tamoxifen treatment, mice exhibit multiple hereditary exostose-like skeletal defects unlike wild-type mice (J:161395)
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice (J:161395)
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice (J:161395)
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice (J:161395)
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice (J:161395)
• in 58% of mice (J:161395)
• in 58% of mice (J:161395)
• mice exhibit bony protrusions with a cartilage cap in the wrist, fibula, shoulder, and rib unlike wild-type mice (J:161395)
• at P14, mice exhibit exostosis unlike wild-type mice (J:161395)
• at P28, mice exhibit multiple protrusions closely resembling osteochondroma unlike in wild-type mice (J:161395)
• mice exhibit bony protrusions with a cartilage cap in the wrist, fibula, shoulder, and rib unlike wild-type mice (J:161395)
• at P14, mice exhibit exostosis unlike wild-type mice (J:161395)
• at P28, mice exhibit multiple protrusions closely resembling osteochondroma unlike in wild-type mice (J:161395)
• mice exhibit mild abnormalities of the joint cartilage unlike wild-type mice (J:161395)
• mice exhibit mild abnormalities of the joint cartilage unlike wild-type mice (J:161395)
• at P14,formation of cartilage occurs in abnormal location compared to in wild-type mice (J:161395)
• at P21, mice exhibit overgrowth and deformity of the cartilage compared with wild-type mice and small cartilaginous islands for in the epiphysis (J:161395)
• at P14,formation of cartilage occurs in abnormal location compared to in wild-type mice (J:161395)
• at P21, mice exhibit overgrowth and deformity of the cartilage compared with wild-type mice and small cartilaginous islands for in the epiphysis (J:161395)
• mild (J:161395)
• at P21, mice exhibit small cartilaginous islands for in the epiphysis unlike in wild-type mice (J:161395)
• mild (J:161395)
• at P21, mice exhibit small cartilaginous islands for in the epiphysis unlike in wild-type mice (J:161395)

tumorigenesis
• osteochondromas resemble ectopic growth plates rather than true neoplasm (J:161395)
• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice (J:161395)
• at P7 to P28 in the ribs (J:161395)
• at P14 in the distal femur (J:161395)
• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice (J:161395)
• at P7 to P28 in the ribs (J:161395)
• at P14 in the distal femur (J:161395)
• osteochondromas resemble ectopic growth plates rather than true neoplasm (J:161395)

growth/size/body

limbs/digits/tail
• mice exhibit bowing of the forearm unlike wild-type mice (J:161395)
• mice exhibit bowing of the forearm unlike wild-type mice (J:161395)
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice (J:161395)
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice (J:161395)
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice (J:161395)
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice (J:161395)
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice (J:161395)

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory