Gba1^tm1.1Smoc

Exons 5-7 (and intervening introns) were replaced with the human equivalents where exon 6 has a p.Phe252Ile (or p.F213I) mutation (NM_000157.4:c.754T>A). The FRT site flanked neomycin resistance gene cassette that was inserted was removed through subsequent Flp-mediated recombination. The human mutation is associated with Gaucher disease (GD). (J:325557)