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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ext1tm1.1Vcs
targeted mutation 1.1, Val C Sheffield
MGI:4437240
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ext1tm1.1Vcs/Ext1tm1.1Vcs involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4437599
cn2
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4437608
cn3
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Tg(Col2a1-cre/ERT)KA3Smac/0
involves: 129S1/Sv * 129X1/SvJ * FVB/N MGI:6101207


Genotype
MGI:4437599
hm1
Allelic
Composition
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1.1Vcs mutation (0 available); any Ext1 mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mice exhibit no osteochondromas at 4-15 weeks of age




Genotype
MGI:4437608
cn2
Allelic
Composition
Ext1tm1.1Vcs/Ext1tm1.1Vcs
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1.1Vcs mutation (0 available); any Ext1 mutation (65 available)
Tg(Col2a1-rtTA,tetO-cre)22Pjro mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 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

skeleton
• 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

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




Genotype
MGI:6101207
cn3
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 (65 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





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory