ENU mutagenesis induced a T to C point mutation that results in the amino acid substitution of proline for serine at position 737 (S737P). Immunohistochemistry detected increased expression in the eye. (J:219404, J:223515)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count