CRISPR/Cas9-mediated mutagenesis created a 4 bp deletion (delAAGG) in exon 21. RT-PCR analysis of testis RNA confirmed the production of an abnormal transcript leading to a premature stop codon. (J:257803)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count