Pequeño Phenotype Is the Result of a 210-kb Genomic Deletion

<div><p>(A) FISH to interphase <i>pq/+</i> chromosome spreads with a p3pTVA transgene probe (red) locates the transgene insertion on mouse Chromosome 3 between BACs RP23-338I15 (yellow) and RP23-296I12 (green).</p><p>(B) The genomic region defined by BAC FISH localization contained six known or predicted genes, one of which, <i>Serpini2,</i> is highly expressed in pancreas and adipose tissue. PCR primer sets A–P (<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0010038#pgen-0010038-st001" target="_blank">Table S1</a>) were used to characterize and define the identified ~210-kb deletion, indicated by red dashed line. PCR primer sets that correspond to known and predicted exon sequences are indicated by black vertical dashed lines. The genomic deletion encompassed the entire <i>Serpini2</i> gene locus and exons 4 to 17 of the predicted gene E-62199.1/E-38943.1.</p>