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.
Dr. Edward Ginns, University of Massachusetts Medical School
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Gba | glucosidase, beta, acid |
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 |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Gba, glucosidase, beta, acid |
Gene Synonym(s) | |
Strain of Origin | 129S/SvEv-Gpi1c |
Chromosome | 3 |
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 |
The expected coat colors are black and white-bellied agouti.
When using the Gba KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #002594 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Gba<tm1Nsb> |
Frozen Mouse Embryo | B6;129S6-Gba<tm1Nsb>/J | $2595.00 |
Frozen Mouse Embryo | B6;129S6-Gba<tm1Nsb>/J | $2595.00 |
Frozen Mouse Embryo | B6;129S6-Gba<tm1Nsb>/J | $3373.50 |
Frozen Mouse Embryo | B6;129S6-Gba<tm1Nsb>/J | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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