Figure 2

The Trooper mutation causes alternate Chd7 transcripts. (A) An agarose gel electrophoresis illustrating the three PCR products obtained from the blue/white screen. PCR products were stained using gel red and run through 2.5% agarose for 120 minutes at 80 V. (B) A schematic representation of splicing around the Trooper mutation in the three amplicons. Chd7x retains 16 nt of intron 9 immediately following the mutation site (red arrow), resulting in frame shift which then causes a premature stop codon in exon 10 (red x). The wild type transcript is present as mice are heterozygous for the mutation and the smallest of the transcripts, Chd7y is created by the skipping of exon 10 and remains in frame. (C) Sequence electropherograms of the three amplicons in the region of the Chd7 Trooper mutation.