Tg(CAG-GBA*N409S)#Clk
Transgene Detail
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Symbol: |
Tg(CAG-GBA*N409S)#Clk |
Name: |
transgene insertion, Lorne A Clarke |
MGI ID: |
MGI:6209785 |
Synonyms: |
hN370S |
Transgene: |
Tg(CAG-GBA*N409S)#Clk Location: unknown
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Alliance: |
Tg(CAG-GBA*N409S)#Clk page
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Strain of Origin: |
C57BL/6 x CBA
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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Tg(CAG-GBA*N409S)#Clk expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
GBA1 (2629) |
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contains N370S |
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Mutation details: The transgenic construct contains the human GBA gene under the direction of CMV enhancer/chicken beta-actin promoter, rabbit beta-globin intron sequence and the rabbit globin polyA site (pCAGEN) promoter. GBA was modified by site-directed mutagenesis (c.1226A >G) to harbor an asparagine to serine mutation at residue 409 (referred to as N370S).
(J:266060)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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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) |
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