Picalm^fit1-4397SB

PCR amplification and sequencing of cDNA and genomic DNA products from mutants hemizygous for this allele revealed a T to A transversion in the splice donor site immediately following exon 4 and deletion of that exon from the mRNA. The absence of exon 4 from the mRNA creates a frameshift in the ORF 3' of the missing exon, thereby allowing the incorporation of a few aberrant codons and a premature stop codon. The aberrant mRNA is predicted to encode a protein that is truncated at residue 116 and can be detected by amplification of smaller-than-normal RT-PCR products from homozygous or hemizygous mutants. (J:84426)