CRISPR/Cas9 technology was used to mutate cysteine 121 within the UBR domain in exon 3 to a premature stop codon. Western blot analysis confirmed absence of protein in P16 testes. (J:243410)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count