ENU mutagenesis induced a T to G point mutation that results in the amino acid substitution of arginine for isoleucine at position 681 (I681R). Authors state that this mutation is hypermorphic. (J:109155, J:206979)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count