Pcnt^m239Asp

ENU mutagenesis induces a two base pair deletion in exon 31. The resulting frame shift disrupts all three isoforms with isoform A containning 46 and isoforms B and S containing 43 novel amino acids before premature truncation. The absence of the 330 KDa and 250 KDa isoforms was confirmed by western blot analysis on E14.5 brain extracts.