This N-ethyl-N-nitrosourea- (ENU-) induced mutation is a C-to-T transition predicted to replace alanine (GCC) with valine (GTC) at codon 230 (A239V) in exon 4. (J:126359)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count