CRISPR-targeting produced a point mutation that results in the amino acid substitution of proline with leucine at position 921 (P921L), which is equivalent to P913L 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