Prpf8^em2Ccpcz

CRISPR/Cas9 technology generated a 17-bp deletion in exon 42 at chr11:75,509,27111:75,509,287, abolishing five C-terminal amino acids including the stop codon. This allele thus encodes a protein variant with altered residues aa2,331-2,335 that is extended by aberrant nine amino acids at the C-terminus (p.Glu2331ValfsX15). This allele resembles human retinitis pigmentosa variants where mutagenic frameshifts originate from the stop codon itself, or from mutations within or shortly upstream of the Tyr2334 residue. (J:336769)