Gba/Mtx1^tm1Bst

A targeting vector was designed to insert an A to G mutation resulting in the substitution of serine for asparagine in exon 9 of glucosidase, beta, acid (Gba), replicating the human N370S mutation found in Gaucher disease patients. A PGK-neo cassette was also inserted downstream of the gene into, and replacing 56bp of, exon 8 (the last coding exon) of Mtx1, disrupting the coding region. Gba and Mtx1 are positioned tail-to-tail, so are transcribed convergently. (J:25197)