A C to T mutation resulting in a histidine to tyrosine substitution at codon 355 (H355Y) was introduced in exon 5 and a floxed hygromycin/thymidine kinase fusion gene with splice acceptor and donor sequences was inserted upstream of exon 5 via homologous recombination. Cre mediated recombination removed the hygromycin/thymidine kinase fusion gene. The mutant protein is expressed at levels similar to the wild-type protein. The mutant protein lacks acetylation activity in MEFs. (J:180628)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count