Ext1^tm1.1Vcs
Targeted Allele Detail

Summary

• Symbol: Ext1^tm1.1Vcs
• Name: exostosin glycosyltransferase 1; targeted mutation 1.1, Val C Sheffield
• MGI ID: MGI:4437240
• Synonyms: Ext1^e2fl, Ext1^tm1.1Kjns
• Gene: Ext1 Location: Chr15:52931657-53209579 bp, - strand Genetic Position: Chr15, 20.0 cM
• Alliance: Ext1^tm1.1Vcs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:157599
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Intragenic deletion
• Mutation details: An inverted loxP site was introduced upstream to exon 2 in a genomic framgment containing the Ext1 gene. The fragment was then subcloned into a vector upstream of the forward-facing loxP-flanked neomycin resistance (Neo) cassette. The linearized targeting vector was electroporated into R1 ES cells. Homozygous Ext1^tm1Kjns mice were crossed to Prxx1-cre transgenic mice that express cre in the germline. In some of the offspring, excision of the neo cassette only is the genetic consequence, leaving exon 2 flanked by inverted loxP sites. Homozygous animals are viable and fertile. (J:157599)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ext1 Mutation: 65 strains or lines available

References

• Original: J:157599 Jones KB, et al., A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9
• All: 5 reference(s)