Klhl3^em1Slin

CRISPR/Cas9 technology generated a G to A change resulting in a tryptophan to stop codon (TGG to TGA) substitution at amino acid 523 (p.W523X) in exon 14. In addition, two single nucleotide changes are in the allele: a BsaAI cutting site at the mutation/silencing mutation site Y525, TAC to TAT and one silencing mutation at T520, ACC to ACA. The p.W523X mutation corresponds to the human p.W470X, one of the pathogenic variants identified in pseudohypoaldosteronism type II patients. (J:335611)