ENU-mutagenesis induced a T to A transversion in exon 15 that results in the amino acid substitution of arginine for tryptophan at position 691 (W691R). Reduced transcript expression was confirmed by RT-PCR. (J:82809, J:171915)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count