Pcdh15^av-5J

RT-PCR and sequencing demonstrated that the coding sequence of exon 13 was spliced to exon 15 due to an A to G substitution of the splice donor sequence of exon 14, yet immunohistochemistry with an antibody to the cytoplasmic domain encoded by exons 32-34 found normal expression patterns in the mouse retina and cDNA from retina and inner ear identified a novel isoform that excludes exons 3 through 15 and includes 6 extracellular domains, the transmembrane and cytoplasmic domains. (J:97048, J:112247)