This phenotypic mutation was identified in an ENU mutagenesis screen. The molecular mutation is an A to G conversion, resulting in the change of phenylalanine 1061 to serine (F1061S, numbered according to the SN form of the protein) in the SEA domain of the encoded protein. (J:176117)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count