Syce1^em1Rrca

CRISPR/Cas9 technology generated a C to T change at position 727 (c.727C>T) that corresponds to the human c.721C>T familial mutation first reported in two sisters with primary amenorrhea. While this nonsense mutation is predicted to result in a truncated protein, qRT-PCR shows decreased transcript levels and Western blot analysis indicates absence of protein in homozygotes. (J:309952)