Adar^em2Crwy

Proline codon 195 (CCT) in exon 2 was targeted for change to alanine (GCT) (p.P195A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This allele represents an unintended deletion event where a single T nucleotide in exon 2 was deleted (c.587delT), resulting in a frameshift and premature stop codon (p.L196Cfs*7); the P195 codon did not change. This mutation affects the translation of the p150 isoform but not the p110 isoform. (J:342175)