Lias^nehe

ENU mutagenesis induced a T-to-C substitution at the splice donor site downstream of exon 6, changing it from G-GT to G-GC (GRCm39:chr5:65555233T>C). This causes anomalous splicing with out-of-frame exon 6 being skipped, which leads to a frameshift after codon 182 (UNIPROT:Q99M04) or 98 (UNIPROT:A0A0M3HEP3) and a premature stop codon after 17 codons in the shifted reading frame in exon 7 (GIQKSSWNASPQTSEVI*). The reduction in protein expression was confirmed by western blot analysis on E9.5 embryos. (J:163880)