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 (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)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count