Spink5^em1Rase

Exon 5 was targeted with TALENs. The DNA binding domain of the 5' TALEN targeted ACCGCAGTAGATGTGAACT, the 3' TALEN targeted GTGAGTACCCTATAAAGCAG. Sequencing of the transcripts from this allele confirmed the deletion of 2 nucleotides in exon 5. The deletion causes a frame-shift and premature stop codon mimicking a mutation found in human Netherton syndrome patients. The engineered mutation in this allele also involved the insertion of 4 nucleotides at the same site to create a diagnostic restriction enzyme site. In mice homozygous for this allele, the transcription level of the gene is greatly reduced. (J:238698)