Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Gba2tm1Rus
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:	Gba2tm1Rus page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:	44 strains or lines available

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)