In this strain the Gba2 gene is disrupted thereby abolishing expression. Homozygous males have impaired fertility, reduced bile acid glucosidase and glucosyltransferase activity.
Dr. David Russell, Univ of Texas Southwest Med Ctr Dallas
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Gba2 | glucosidase beta 2 |
In this strain, exons 5-10 of the glucosidase beta 2 (Gba2) gene were removed, abolishing gene expression. GBA2 is an enzyme expressed at high levels in teh testis and brain, and at lower levels in other tissues. GBA2 catalyzes the cleavage and formation of bile acid-glucose conjugates and the cleavage of glucosylceramides. Homozygotes are viable and normal in size. Homozygous males have impaired fertility due to globozoospermia, abnormal acrosomes, and highluy defective sperm mobility, while heterozygous males are fertile. Glucosylceramides accumulate in the testes to high levels.
A targeting vector was designed to replace exons 5-10 of the glucosidase beta 2 (Gba2) gene with an ACN cassette. The ACN cassette, containing the neomycin resistance gene and Cre recombinase gene under the control of angiotensin-converting enzyme promoter, is flanked by loxP sites. Cre-mediated recombination during spermatogenesis removed the cassette leaving one loxP site. The construct was electroporated into 129S6/SvEvTac derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts and the resulting males were bred to C57BL/6J females. These mice were maintained on a mixed C57BL/6J;129 background. Upon arrival at The Jackson Laboratory, mice were bred to C57BL/6J (Stock No. 000664) for at least one generation to establish the colony.
Allele Name | targeted mutation 1, David W Russell |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Gba2- |
Gene Symbol and Name | Gba2, glucosidase beta 2 |
Gene Synonym(s) | |
Strain of Origin | 129S6/SvEvTac |
Chromosome | 4 |
Molecular Note | The self excising ACN cassette was inserted to replace exons 5-10 of the locus. Absence of protein was confirmed in mutant brain, testis and liver samples. |
Mutations Made By | Dr. David Russell, Univ of Texas Southwest Med Ctr Dallas |
When maintaining a live colony, homozygous females may be bred to heterozygous males. The donating investigator reports that homozygous males have impaired fertility.
When using the B6;129S6-Gba2tm1Rus/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018772 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wildtype for Gba2<tm1Rus> |
Frozen Mouse Embryo | B6;129S6-Gba2<tm1Rus>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129S6-Gba2<tm1Rus>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129S6-Gba2<tm1Rus>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6;129S6-Gba2<tm1Rus>/J Frozen Embryo | $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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