CRISPR/Cas9 technology deleted exon 2 producing a frameshift and a premature stop codon in exon 3, which is predicted to cause nonsense-mediated decay of the mutant transcript. Western blot analysis confirmed absence of protein in testicular extracts and immunohistochemistry confirmed absence in testes in homozygotes. (J:330265)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count