ENU mutagenesis induced a C-to-A change resulting in a nonsense mutation in the C-terminal coiled-coil domain. The amino acid substitution results in a stop codon in place of serine at position 792 (p.S792*). (J:168691)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count