Mpi^tm1.1Frz

Tyrosine codon 255 (TAC) in exon 6 was changed to cysteine (TGC) (p.Y255C) and a loxP site and an FRT site flanked neomycin resistance gene cassette was inserted into intron 5 and a second loxP site into intron 8. The mutation is associated with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) in humans. A silent C>A mutation was introduced in the 3rd base of codon 254 to create a diagnostic NdeI restriction site. The neo cassette was remove through subsequent flp-mediated recombination. (J:320423)