CRISPR/Cas9 technology generated a 7-bp deletion (ACTATCA) in exon 1, which is predicted to result in a premature stop codon in exon 1 and a frame-shift mutation. qPCR analysis shows a 92% reduction in mRNA levels in isolated testis and germ cells from homozygotes. Immunofluorescent labeling confirmed absence of protein in sperm. (J:290694)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count