Gba1^tm1Nsb
Targeted Allele Detail

Summary

• Symbol: Gba1^tm1Nsb
• Name: glucosylceramidase beta 1; targeted mutation 1, Edward Ginns
• MGI ID: MGI:1857175
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm1Nsb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:1100
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin resistance cassette was inserted into exons 9 and 10 of the gene, which encode part of the active site of the enzyme. Enzymatic activity of the targeted protein in homozygous mutant mice was less than 4% of controls. (J:1100)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
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 Gba1 Mutation: 47 strains or lines available

Notes

Homozygotes for the mutation die within 24 hours after birth, and store glucocerebroside in reticuloendothelial cell lysosomes (J:1100). Epidermal effects of Gba^tm1Nsb include elevated glucosylceremide, diminished ceremide, and incompetent barrier function (J:17577).

Phenotypic Similarity to Human Syndrome: Gaucher Disease J:200186

References

• Original: J:1100 Tybulewicz VL, et al., Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature. 1992 Jun 4;357(6377):407-10
• All: 21 reference(s)