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Allele Symbol Allele Name Allele ID |
Ext1tm1.1Vcs targeted mutation 1.1, Val C Sheffield MGI:4437240 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when doxycycline induction on double-mutants is performed from postnatal day 8 to P15 by introduction into drinking water, 4- , 6-, and 10-week old mice form multiple osteochondromas (in knees and ribs)with 100% penetrance
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• when doxycycline induction on double-mutants is performed from postnatal day 8 to P15 by introduction into drinking water, 4- , 6-, and 10-week old mice form multiple osteochondromas (in knees and ribs)with 100% penetrance
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hereditary multiple exostoses | DOID:206 |
OMIM:133700 OMIM:133701 OMIM:600209 |
J:157599 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• 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
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• synchondroses become disorganized over time in tamoxifen-injected mice
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• 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 | |
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 05/07/2024 MGI 6.23 |
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