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Gbatm2.1Eginn
Targeted Allele Detail
Nomenclature
Symbol: Gbatm2.1Eginn
Name: glucosidase, beta, acid; targeted mutation 2.1, Edward I Ginns
MGI ID: MGI:5587918
Synonyms: R463C
Gene: Gba  Location: Chr3:89110223-89116180 bp, + strand  Genetic Position: Chr3, 39.01 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:211953
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Nucleotide substitutions
 
Mutation detailsA point mutation resulted in R463C substitution was introduced by PCR mutagenesis. Cre mediated recombination removed loxP-flanked neomycin cassette between metaxin and glucocerebrosidase, leaving only a 34 bp loxP sequence. Gba activity decreased to approximately 35% of the enzyme activity in normal mice. (J:211953)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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
Carrying any Gba Mutation:  34 strains or lines available
References
Original:  J:211953 Ginns EI, et al., Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction. Mol Genet Metab. 2014 Feb;111(2):152-62
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory