A PGK-neomycin resistance cassette inserted into the paternally derived maternal gene replaced 0.27kb of coding sequence including exon 6 and portions of exons 5 and 7. Northern blot analysis of heterozygous ES cells using a cDNA probe for exons 7-10 detected a fusion transcript produced by the disrupted allele that is larger than the wild-type transcript. Northern blot analysis of brain tissue from heterozygous mutant mice using a neo probe also detected the larger transcript, and did not detect any transcript using a probe for the deleted sequences. Immunoblot analysis using human antisera did not detect protein in brain from heterozygous mutant mice. (J:47318)