Gba1^tm1.1Karl
Targeted Allele Detail

Summary

• Symbol: Gba1^tm1.1Karl
• Name: glucosylceramidase beta 1; targeted mutation 1.1, Stefan Karlsson
• MGI ID: MGI:3687966
• Synonyms: GC^null
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm1.1Karl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:113751
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Exons 9-11 were removed via cre mediated recombination in ES cells. (J:113751)

Disease models

Expression

In Structures Affected by this Mutation:

5 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: 43 strains or lines available

References

• Original: J:113751 Enquist IB, et al., Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13819-24
• All: 4 reference(s)