ENU mutagenesis induced a T to C point mutation that results in the amino acid substitution of proline for lysine at position 1775 (L1775P) in the fourth Kelch domain. (J:206541)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count