CRISPR/Cas9 technology generated a 26-bp deletion in the KRAB domain. This deletion leads to a frameshift and a protein that is translated from an internal AUG codon and lacks the first 42 amino acids, including several conserved residues of the KRAB A domain, which was confirmed in testis protein extracts by Western blot analysis. Protein levels of the N-terminal truncated protein are decreased in homozygous and heterozygous protein extracts (J:320904)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count