ENU mutagenesis induced a T to C transition in exon 8 that alters an evolutionarily conserved leucine to a proline at amino acid 375 (L375P), in the winged-helix domain. The mutant protein is expressed and stable, but is nonfunctional in caspase cleavage assays. (J:201947)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count