CRISPR/Cas9 technology generated a TAC to GCC change resulting in a tyrosine to alanine substitution at amino acid 68 (p.Y68A). Western blot analysis confirmed expression of protein in the testis. (J:328980)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count