ENU mutagenesis induced a T to G point mutation in exon 17 that produces an amino acid substitution of arginine for lysine at position 749 (L749R). (J:259382)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count