All Phenotypes Ext1<tm1Vcs> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ext1^tm1Vcs
targeted mutation 1, Val C Sheffield
MGI:3834913

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ext1^tm1Vcs/Ext1^tm1Vcs	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3844723
cn2	Ext1^tm1Vcs/Ext1⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4437603
cn3	Ext1^tm1Vcs/Ext1^tm1Vcs Tg(Col2a1-rtTA,tetO-cre)22Pjro/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4437605
cn4	Ext1^tm1Vcs/Ext1⁺ Tg(Col2a1-rtTA,tetO-cre)22Pjro/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4437606
cn5	Ext1^tm1Vcs/Ext1^tm1Vcs Tg(Sp7-cre/ERT)1Hmk/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4437609
cn6	Ext1^tm1Vcs/Ext1⁺ Tg(Col2a1-cre)1Bhr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4437602

Allelic Composition	Ext1^tm1Vcs/Ext1^tm1Vcs
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 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

Allelic Composition	Ext1^tm1Vcs/Ext1⁺ Hprt1^{tm1(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:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 available)
Hprt1^{tm1(CAG-cre)Mnn} mutation (1 available); any Hprt1 mutation (1274 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

Allelic Composition	Ext1^tm1Vcs/Ext1^tm1Vcs 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:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 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 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

Allelic Composition	Ext1^tm1Vcs/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:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 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

Allelic Composition	Ext1^tm1Vcs/Ext1^tm1Vcs 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:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 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

Allelic Composition	Ext1^tm1Vcs/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:
Ext1^tm1Vcs mutation (1 available); any Ext1 mutation (63 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

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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