A T-to-C point mutation in the 5' splice consensus sequence of exon 2 and intron 2 was induced by ENU mutagenesis. Sequencing of RT-PCR products and real-time quantitative RT-PCR indicated that this splice site mutation results in the exclusion of exon 2 which results in the destabilization of the message. Neither protein nor enzyme activity was detected in homozygous mutant mice. (J:87589)