A genomic fragment containing most of exon 3 and all of exon 4 was replaced with a promoterless neomycin selection gene. A shortened transcript is expressed from this allele that splices exon 2 to exon 5. A 50% reduction in protein activity was demonstrated in tissues of heterozygous mice. Additional genetic studies and FISH analysis indicated that a duplication and translocation of flanking sequences to a different chromosome had taken place. See also Ts(12<16>)1Cje. (J:42265)