CRISPR/Cas9 technology generated a 19 bp deletion (GGCCCGGGGCCAGACAGCA) in exon 2 leading to a frameshift mutation and premature translation termination. Western blot analysis confirmed absence of protein in testes. (J:310334)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count