Npc2^tm1Plob

As a result of aberrant recombination, a portion of the targeting vector that was designed to disrupt exon 2 with a floxed neo cassette instead inserted into intron 3. The endogenous exon 2 was left intact and was followed by duplicated regions of intron 1, the vector-derived exon 2 disrupted by the floxed neo cassette, and a duplicated region of intron 2. Sequence analysis identified an additional 24 bp of unknown origin at the site of insertion. This results in significant mis-splicing of the Npc2 mRNA, with ~4% of wild-type levels of correctly spliced message and protein detected by RT-PCR and western blotting, respectively. (J:89617)