ENU mutagenesis induced a T to C point mutation in exon 2 that results in a frame-shift mutation and premature stop codon that truncates te protein at lysine 50. Western blot analysis confirmed the absence of protein expression in the liver and kidney. (J:222356)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count