Summary | Transgene origin | Transgene description | Find Mice (IMSR) | References

Symbol:	Tg(CAG-GBA*L483P)8Clk
Name:	transgene insertion 8, Lorne A Clarke
MGI ID:	MGI:6209788
Synonyms:	hL444P
Transgene:	Tg(CAG-GBA*L483P)8Clk  Location: unknown
Alliance:	Tg(CAG-GBA*L483P)8Clk page

Strain of Origin:

Not Specified

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutations:    Insertion, Nucleotide substitutions   Tg(CAG-GBA*L483P)8Clk expresses 1 gene Transgene expresses: Organism Expressed Gene Homolog in Mouse Note human GBA1 (2629) Gba1  (MGI:95665) contains L444P   Mutation details: The transgenic construct contains the human GBA gene under the direction of the CMV enhancer/chicken beta-actin promoter, rabbit B-globin intron sequence and the rabbit globin polyA site (pCAGEN) promoter. GBA was modified by site-directed mutagenesis (c.1448T>C) to harbor an leucine to proline mutation at residue 483 (described as L444P). (J:266060)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available

Original:	J:266060 Sanders A, et al., Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease. Blood Cells Mol Dis. 2013 Aug;51(2):109-15
All:	1 reference(s)