This phenotypic mutation was identified in an ENU mutagenesis screen. The molecular mutation is a single nucleotide G to A missense transition in exon 16, predicted to cause an amino acid change from valine to methionine (V685M). (J:142108)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count