Gba2^tm1Rus
Targeted Allele Detail

Summary

• Symbol: Gba2^tm1Rus
• Name: glucosidase beta 2; targeted mutation 1, David W Russell
• MGI ID: MGI:3691302
• Synonyms: Gba2^-
• Gene: Gba2 Location: Chr4:43566928-43578873 bp, - strand Genetic Position: Chr4, 23.05 cM
• Alliance: Gba2^tm1Rus page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:114991
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The self excising ACN cassette was inserted to replace exons 5-10 of the locus. Absence of protein was confirmed in mutant brain, testis and liver samples. (J:114991)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gba2 Mutation: 45 strains or lines available

References

• Original: J:114991 Yildiz Y, et al., Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J Clin Invest. 2006 Nov;116(11):2985-94
• All: 10 reference(s)