The hL444 transgene uses a CAG promoter to direct expression of the human GBA1 (glucosidase, beta, acid 1) gene modified to incorporate an leucine to proline substitution at residue 483 (described as L444P). 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 mice carrying the hL444P transgene are combined with mice homozygous for the Gba1 null allele (Gba1tm1.1Clk), the transgene prevents neonatal lethality in progeny. By 52 weeks of age, hL444P/Gba1-null mice develop pearly nodular splenic lesions. Gaucher cells are found in the spleen beginning at 45 weeks and increase progressively in number with age. Gaucher cells are not found in the liver, lung or bone marrow. hL444P 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*N409S)#Clk/Mmjax - Stock No. 050598.

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Transgenic hL444P mice express a human GBA1 (glucosidase, beta, acid 1) gene modified to include the L444P (L483P) 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.