CRISPR/Cas9 technology generated a 19 bp (AGAGGAGGCCTCCAGCTGC) deletion in exon 2. Western blot analysis confirmed the absence of protein expression in the testes of homozygous mutant males. (J:324057)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count