Pabpc1l^em2Lwa

CRISPR/Cas9 technology generated a CG to TC change at position 410-411 (c.410_411delCGinsTT) resulting in a serine to phenylalanine substitution at amino acid 137 (S137F). In addition, a synonymous AAG to AAA p.K95 mutation and CAG to GAA p.E373 mutation were introduced to avoid gRNA recognition and excision. S137F is a variant identified in a family with female infertility. (J:336445)