Gba1^tm2Karl
Targeted Allele Detail

Summary

• Symbol: Gba1^tm2Karl
• Name: glucosylceramidase beta 1; targeted mutation 2, Stefan Karlsson
• MGI ID: MGI:3764510
• Synonyms: gba^lnl
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm2Karl page

Gba1^tm2Karl/Gba1^tm2Karl Tg(KRT14-cre)8Brn/? mice display a severe and rapidly progressive neurological disease

Show the 6 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:127108
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A floxed neo cassette was inserted into intron 8. The abherrant splicing product was confirmed by RT-PCR analysis of brain, spleen and liver tissues and reduced enzymatic activity was observed in the brain, spleen and liver. (J:127108)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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:127108 Enquist IB, et al., Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17483-8
• All: 9 reference(s)