Mice homozygous for this mutation die neonatally due to a defect in the skin vapor barrier. Homozygous mice are small at birth and display an abnormal respiration that progresses to cyanosis and death. This phenotype is similar to a severe infantile form of Gaucher's disease in humans.
|Allele Name||targeted mutation 1, Edward Ginns|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Gba, glucosidase, beta, acid|
|Strain of Origin||129S/SvEv-Gpi1c|
|General Note||Homozygotes for the mutation die within 24 hours after birth, and store glucocerebroside in reticuloendothelial cell lysosomes (J:1100). Epidermal effects of Gbatm1Nsb include elevated glucosylceremide, diminished ceremide, and incompetent barrier function (J:17577). |
Phenotypic Similarity to Human Syndrome: Gaucher Disease J:200186
|Molecular Note||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.|
|Mutations Made By|| |
Dr. Edward Ginns, University of Massachusetts Medical School
When maintaining a live colony, heterozygous mice may be bred to wildtype mice from the colony. Mice homozygous for the mutation are not viable.
When using the Gba- mouse strain in a publication, please cite the originating article(s) and include JAX stock #003321 in your Materials and Methods section.