ENU mutagenesis induced a T-to-C transition resulting in a phenylalanine-to-serine substitution at amino acid 78 (F78S) of the protein (chromosome 19:45,049,815 bp).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count