This gene was targeted for single base substitution using a third generation base editor (BE3). This allele has a mutation of TGGG sequence to TAAA, resulting in a stop-gain at tryptophan 244 (p.W244*). Western blot analysis confirmed the absence of protein expression in testis samples from homozygous mutant males. (J:322334)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count