CRISPR/Cas9 technology generated a TAC to GCT change resulting in a tyrosine to alanine substitution at amino acid 2537 (p.Y2537A). This is equivalent to the human mutation encoding p.Y2533A which disrupts H3K27me3 engagement. (J:334955)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count