Gba1^tm1.1Pmis
Targeted Allele Detail

Summary

• Symbol: Gba1^tm1.1Pmis
• Name: glucosylceramidase beta 1; targeted mutation 1.1, Pramod K Mistry
• MGI ID: MGI:4867659
• Synonyms: GBA1^LoxP
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm1.1Pmis page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:167081
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A floxed neo cassette was inserted upstream of exon 8 and an additional loxP site was inserted downstream of exon 11. Cre-mediated recombination removed the neo cassette leaving exons 8 through 11 floxed. (J:167081)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gba1 Mutation: 47 strains or lines available

References

• Original: J:167081 Mistry PK, et al., Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8
• All: 4 reference(s)