ENU mutagenesis induced a T to A transversion in exon 2. This resuled in a leucine to stop codon change in codon 50 (L50X). mRNA levels detected by RT-PCR were significantly reduced in all tissues tested and protein was absent from lungs and tracheal homogenates. (J:195535)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count