Two conserved lysine residues in exon 1 were replaced by arginine residues at amino acid 381 and 500 (K381R and K500R). A neomycin selection cassette was removed. These two mutations abolish SUMOylation at the two lysines. (J:273238)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count