Mks1^krc

ENU induced a T to C transition in the splice donor site within intron 5 (c.515+6T>C) causing a 21 bp insertion with an inframe nonsense codon (E173Stop). The absence of wild-type transcript was confirmed by RT-PCR. The predicted protein is truncated after 172 of 561 amino acids prior to the B9 domain. (J:154075)