Recql4^tm1Abe

6 bp (2045 to 2050) were replaced with a neomycin selection cassette inserted in exon 13 by homologous recombination. The disrupted exon encodes a RecQ helicase domain and has been identified as being mutated in human patients with Rothmund-Thomson syndrome (RTS). RT-PCR analysis of mutant MEFs identified transcript in which exon 12 had spliced to exon 14. Because the length of exon 13 is a multiple of 3 (180 bp), the aberrant transcript is expected to be in frame. In addition to the transcript lacking exon 13, which was determined to be present at a level 1% to 2% that of wild-type, shorter mutant transcripts comprised of exons 1 through 12 were detected. (J:85574)