ENU induced at T to C transition that results in the amino acid substitution of serine for phenylalanine at position 503 (F503S). Flow cytometry confirmed that protein half-life is reduced. (J:158876)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count