Tonsl^em1Tjch

CRISPR/Cas9 technology was used to generate a C to T change in exon 18 resulting in an arginine to tryptophan mutation at amino acid 924 (R924W). This mutation corresponds to the human p.Arg934Trp variant found in patients with SPONASTRIME dysplasia. Two lines are reported, lines A and B, and line A has been chosen as the representative line and entered as this allele. (J:282817)