ENU mutagenesis induced a T to A transversion at position 2599 in exon 15. This point mutation results in termination of protein translation instead of coding for a cystein at position 772 (C772X). The protein product is truncated after the second RCC1 homology domain. (J:149893)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count