CRISPR/Cas9 technology generated a 4-bp (TGTT) deletion in exon 2 predicted to result in a frameshift and early chain termination due to a premature stop codon and generate a 30 amino acid protein instead of the 529 amino acid wild-type protein. Western blot and immunofluorescence analysis confirmed absence of protein in testes. This allele represents line 4. (J:338393)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count