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A truncated PGK-neomycin resistance cassette and a 17 bp sequence that contains stop codons in all three frames was introduced into sequence corresponding to exon 13 of human gene. Northern blot analysis detected both forms of transcript in brain from 3 week old homozygous mice. In kidney, spleen, and liver from these mice, both transcripts were reduced or absent. RT-PCR studies using primers spanning the region of the exon carrying the PGK-neo insertion detected markedly reduced amounts of a shorter product amplified from this allele in kidney, spleen, and liver from homozygous mutant mice compared with wild-type mice, whereas in brain apparently equal amounts of the wild-type and the shorter product were amplified. The shorter product was found to be lacking a 30 bp sequence that could be translated to make a protein that lacks ten amino acid residues in a highly conserved domain shared by OCRL. The authors propose that the 17 bp insertion created a consensus 5' splice site that would splice out the PGK-neo sequence, the three-frame stop codons, and 30 nucleotides from the 3' part of the exon. (J:47884)