The hN370S transgene uses a CAG promoter to direct expression of the human GBA1 (glucosidase, beta, acid 1) gene modified to incorporate an asparagine to serine substitution at residue 409 (also described as N370S). Mutations in GBA1, particularly N370S and L444P, are associated with Gaucher disease, a storage disorder caused by the absence of acid B-glucosidase, a lysosomal hydrolase. When the hN370S transgene is combined with the Gba1 null allele (Gba1tm1.1Clk), the transgene prevents neonatal lethality in progeny. In the first 24 hours, pups exhibit wrinkled and dried skin, but by 48 hours, pups resemble normal littermates. In addition, hN370S-tg4 Gba1-null mice exhibit increases in glucosylceramide and glucosylsphingosine levels in the spleen and liver. Glucosylsphingosine levels also are increased in the central nervous system. This strain may be useful in studies of the mutations underlying Gaucher disease.This strain is one of two Gba1 null strains carrying modified GBA1 transgenes -&nbsp; B6;129-Gba1tm1.1Clk Tg(CAG-GBA*L483P)#Clk/Mmjax - Stock No. 050598.

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Transgenic hN370S mice express a human GBA1 (glucosidase, beta, acid 1) gene modified to include the N370S (N409S) substitution associated with Gaucher disease on a Gba1-null background. This strain may be useful in studies of the mutations underlying Gaucher disease.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.