Dsg3^sqk

A 1092 bp deletion was identified in the region between the 3' end of intron 5 and part of exon 7. The deletion removes all of exon 6, intron 6 and 12 codons of exon 7. The mutant protein has a loss of 69 amino acids within the extracellular cadherin domain 2 (EC2). Real-time quantitative PCR and Western blot analyses indicated similar levels of transcript expression but reduced levels of protein expression compared to the wild-type protein. (J:219200)