CRISPR/cas9 mediated recombination created a 5 bp deletion (TTGTG) in exon 2 resulting in a frameshift mutation and downstream premature stop codon. Western and immunoblot analyses confirmed the absence of expression in testes from homozygous males. (J:279342)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count