Ezh2^tm1.1Nesh
Targeted Allele Detail

Summary

• Symbol: Ezh2^tm1.1Nesh
• Name: enhancer of zeste 2 polycomb repressive complex 2 subunit; targeted mutation 1.1, Norman E Sharpless
• MGI ID: MGI:6393578
• Synonyms: Ezh2^Y641F
• Gene: Ezh2 Location: Chr6:47507073-47572275 bp, - strand Genetic Position: Chr6, 22.92 cM, cytoband B
• Alliance: Ezh2^tm1.1Nesh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:239472
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6 x 129

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A minigene containing a loxP site, exons 16-20, a STOP transcriptional/translational termination sequence, FRT-flanked neomycin resistance gene, a second loxP site, a mutated exon 16 containing a tyrosine to phenylalanine substitution at amino acid 641 (p.Y641F) in exon 16, and exons 17-20 replaced exons 16-20. Flp-mediated recombination removed the neomycin selection cassette. This allele expresses the wild-type transcript due to the STOP sequence. The Y641F allele is equivalent to the most common EZH2 missense allele, Y646F, in human cancers. Cre-mediated recombination can be used to remove the STOP sequence and express the mutation. (J:239472)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ezh2 Mutation: 72 strains or lines available

References

• Original: J:239472 Souroullas GP, et al., An oncogenic Ezh2 mutation induces tumors through global redistribution of histone 3 lysine 27 trimethylation. Nat Med. 2016 Jun;22(6):632-40
• All: 2 reference(s)