A loxP site and FRT flanked neo cassette was inserted in intron 11, an Asp to Asn mutation was introduced at position 477 in exon 12, and a loxP site was inserted in intron 12 via homologous recombination. Flp-mediated recombination removed the neo cassette. The mutant protein is expressed at higher levels than the wild-type protein and is unable to bind Lys-63-linked polyubiquitin chains. (J:243728)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count