ENU mutagenesis induced a C to T mutation in exon 4 that is predicted to result in a truncation at amino acid 105 eliminating the last 26 amino acids. The absence of protein expression was confirmed by western blot analysis on embryo extracts. (J:161417)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count