CRISPR/Cas9 technology targeting exon 2 results in an 1009 bp deletion from the 83 bp after the initiation codon to the 199th base of exon 3. Western blot analysis confirmed the absence of protein expression in testis. (J:247929)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count