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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ext1tm1Vcs
targeted mutation 1, Val C Sheffield
MGI:3834913
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ext1tm1Vcs/Ext1tm1Vcs involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3844723
cn2
 		Ext1tm1Vcs/Ext1+
Hprt1tm1(CAG-cre)Mnn/Hprt1+ 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4437603
cn3
 		Ext1tm1Vcs/Ext1tm1Vcs
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4437605
cn4
 		Ext1tm1Vcs/Ext1+
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4437606
cn5
 		Ext1tm1Vcs/Ext1tm1Vcs
Tg(Sp7-cre/ERT)1Hmk/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4437609
cn6
 		Ext1tm1Vcs/Ext1+
Tg(Col2a1-cre)1Bhr/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4437602


Genotype
MGI:3844723
hm1
Allelic
Composition		 Ext1tm1Vcs/Ext1tm1Vcs
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Vcs mutation (1 available); any Ext1 mutation (65 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:145524 )
• mice are viable, fertile, and show no gross morphological or behavioral abnormalities

neoplasm
neoplasm ( J:157599 )
N
• mice exhibit no osteochondromas at 6-10 weeks of age




Genotype
MGI:4437603
cn2
Allelic
Composition		 Ext1tm1Vcs/Ext1+
Hprt1tm1(CAG-cre)Mnn/Hprt1+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Vcs mutation (1 available); any Ext1 mutation (65 available)
Hprt1tm1(CAG-cre)Mnn mutation (1 available); any Hprt1 mutation (1279 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, complete penetrance ( J:157599 )
• no viable embryos are recovered at E11.5




Genotype
MGI:4437605
cn3
Allelic
Composition		 Ext1tm1Vcs/Ext1tm1Vcs
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Vcs mutation (1 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
increased osteochondroma incidence ( J:157599 )
• 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
• when induction with doxycycline is achieved by intraperitoneal injection to lactating dams on P8, 100% of offspring exhibit osteochondromas

mortality/aging
prenatal lethality, incomplete penetrance ( J:157599 )
• with doxycycline induction of cre activity during gestation, only 1 pup was observed
• without doxycycline induction during gestation, viable offspring are generated at normal ratios

skeleton
increased osteochondroma incidence ( J:157599 )
• 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
• when induction with doxycycline is achieved by intraperitoneal injection to lactating dams on P8, 100% of offspring exhibit osteochondromas

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:4437606
cn4
Allelic
Composition		 Ext1tm1Vcs/Ext1+
Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Vcs mutation (1 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
mortality/aging
prenatal lethality, incomplete penetrance ( J:157599 )
• with doxycycline induction of cre activity during gestation, only 1 pup was observed
• without doxycycline induction during gestation, viable offspring are generated

neoplasm
neoplasm ( J:157599 )
N
• mice exhibit no osteochondromas at 6-10 weeks of age with doxycycline induction from P8 to 15




Genotype
MGI:4437609
cn5
Allelic
Composition		 Ext1tm1Vcs/Ext1tm1Vcs
Tg(Sp7-cre/ERT)1Hmk/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Vcs mutation (1 available); any Ext1 mutation (65 available)
Tg(Sp7-cre/ERT)1Hmk mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
neoplasm ( J:157599 )
N
• mice exhibit no osteochondromas at 9 weeks of age with tamoxifen induction on P8




Genotype
MGI:4437602
cn6
Allelic
Composition		 Ext1tm1Vcs/Ext1+
Tg(Col2a1-cre)1Bhr/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Vcs mutation (1 available); any Ext1 mutation (65 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
preweaning lethality, complete penetrance ( J:157599 )
• no animals are recovered at weaning




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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory