CRISPR-targeting produced a point mutation that results in the amino acid substitution of histidine with tyrosine at position 1285 (H1285Y), which is equivalent to H1277Y in human patients with midline brain defects. (J:296537)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count