ENU induced a T to A transversion at codon 209 resulting in a tyrosine to asparagine mutation. Experiments in cultured cells indicate that the mutant protein is retained in the endoplasmic reticulum. (J:243806)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count