ENU mutagenesis induced a point mutation (T to A chr 11: 96973058) in the second intron altering the splice acceptor site and thereby preventing normal splicing. This mutation deletes 8 amino acids from the final peptide. Activated splenocytes exhibit a 3- to 4-fold decrease in protein expression compared with similarly treated wild-type cells. (J:154069)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count