Gba1^tm2.1Eginn
Targeted Allele Detail

Summary

• Symbol: Gba1^tm2.1Eginn
• Name: glucosylceramidase beta 1; targeted mutation 2.1, Edward I Ginns
• MGI ID: MGI:5587918
• Synonyms: R463C
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm2.1Eginn page

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 details: A 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)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Gba1 Mutation: 47 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)