Tg(CAG-GBA*L483P)8Clk
Transgene Detail

Summary

• 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

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• 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)

Find Mice (IMSR)

• 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

References

• 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)