Trapped gene association determined by genome coordinate overlap and strand. An expression cassette encoding a beta-galactosidase neomycin resistance fusion protein inserted into intron 50. Inclusion of a splice acceptor sequence and a 3' end cleavage and polyadenylation signal at the 5' and 3' ends of the beta-Geo cassette, respectively, is predicted to generated a truncated protein with peptide sequence corresponding to the first 50 exons fused to beta-Geo but lacking the SET domain and methyltransferase activity. Real-time PCR confirmed a 50% reduction of mRNA containing exon 52 in heterozygotes. (J:225779)
Basic Information
Insertion of gene trap vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count