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EN
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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
