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Phenotypes Associated with This Genotype
Genotype
MGI:6101207
Allelic
Composition
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1.1Vcs mutation (0 available); any Ext1 mutation (63 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mice injected with tamoxifen at P7 or P10 develop osteochondromas in the cranial base along the synchondrosis growth plates over time
• by 4 weeks after tamoxifen injection, the large cartilaginous outgrowths protrude away from the synchondrosis surface into the nasal and cranial sides which display a typical growth plate-like organization and a thick perichondrium
• 5 to 6 months after tamoxifen injection, ossified osteochondromas protrude away from the cranial base surface toward the brain and nasal cavities at the sites of both the intrasphenoidal and spheno-occipital synchondroses
• mice develop large osteochondromas in ribs and long bones after tamoxifen injection

craniofacial
• 2 and 3 weeks post-tamoxifen injection, the perichondrial contour of the cranial base is distorted and uneven, and round and enlarged cells occupy its inner half and protrude into the outer half
• cranial base of tamoxifen-treated mice is thickened at the location of osteochondromas
• zones of chondrocyte maturation in the cranial base progressively lose their sharp delineating and cellular characteristics
• synchondroses become disorganized over time in tamoxifen-injected mice

skeleton
• 2 and 3 weeks post-tamoxifen injection, the perichondrial contour of the cranial base is distorted and uneven, and round and enlarged cells occupy its inner half and protrude into the outer half
• cranial base of tamoxifen-treated mice is thickened at the location of osteochondromas
• zones of chondrocyte maturation in the cranial base progressively lose their sharp delineating and cellular characteristics
• synchondroses become disorganized over time in tamoxifen-injected mice
• mice injected with tamoxifen at P7 or P10 develop osteochondromas in the cranial base along the synchondrosis growth plates over time
• by 4 weeks after tamoxifen injection, the large cartilaginous outgrowths protrude away from the synchondrosis surface into the nasal and cranial sides which display a typical growth plate-like organization and a thick perichondrium
• 5 to 6 months after tamoxifen injection, ossified osteochondromas protrude away from the cranial base surface toward the brain and nasal cavities at the sites of both the intrasphenoidal and spheno-occipital synchondroses
• mice develop large osteochondromas in ribs and long bones after tamoxifen injection

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary multiple exostoses DOID:206 OMIM:133700
OMIM:133701
OMIM:600209
J:242977


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory