The gene was disrupted by replacement of a 3 kb region encoding exons 8-10 with a PGK-hprt cassette (in the reverse orientation) via homologous recombination. The gene targeting event does not disrupt transcription initiation and mutant transcripts were detected by RT-PCR in homozygous mutant animals. Western blot analysis using antibodies directed against the C-terminus of the protein failed to detect protein product in the cerebellum of homozygous mutants. (J:76862)