CRISPR/Cas9 genome editing was used to delete 29 bp causing a frameshift in the reading frame that leads to a premature stop codon after amino acid 15. qRT-PCR, Western blotting, and immunohistochemistry confirmed the deletion in the testes of homozygous mutant mice. (J:320651)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count