CRISPR/Cas9-mediated genome editing generated a 101bp deletion in exon 1 leading to a frameshift that results in nonsense transcripts with a premature stop codon after amino acid 23. Western blot analysis of basic nuclear proteins isolated from epididymal sperm confirmed the absence of detectable mature protein in homozygous mutant males. (J:243626)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count