A 7 bp deletion occurs in this ENU mutant in exon 13. This results in a frame shift that changes the last 12 amino acid residues and adds an additional 25 amino acids. The C-terminal sumoylated Lysine at position 476 is lost. (J:142335)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count