All seven lysine codons in exon 11 were mutated to glutamine (p.K367Q, p.K369Q, p.K370Q, p.K378Q, p.K379Q, p.K383Q, p.K384Q) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 10. Cre-mediated recombination removed the neo cassette. The mutant protein mimics the acetylated form of the protein. (J:238814)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count