Strain Name:

B6;129S6-Gba2tm1Rus/J

Stock Number:

018772

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Availability:

Cryopreserved - Ready for recovery

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In this strain the Gba2 gene is disrupted thereby abolishing expression. Homozygous males have impaired fertility, reduced bile acid glucosidase and glucosyltransferase activity.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
Generation?+pN1F1pN1
Generation Definitions
 
Donating InvestigatorDr. David Russell,   Univ of Texas Southwest Med Ctr Dallas

Description
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.

Development
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.

Control Information

  Control
   Wild-type from the colony
   101043 B6129SF1/J (approximate)
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Spastic Paraplegia 46, Autosomal Recessive; SPG46   (GBA2)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Gba2tm1Rus/Gba2+

        involves: 129S6/SvEv * C57BL/6J
  • homeostasis/metabolism phenotype
  • abnormal enzyme/coenzyme activity
    • beta-glucosidase 2 (Gba2) activity is reduced by ~30% in testes and liver   (MGI Ref ID J:114991)
    • bile acid glucosyltransferase activity is decreased by 20-50% in tissues   (MGI Ref ID J:114991)

Gba2tm1Rus/Gba2tm1Rus

        involves: 129S6/SvEv * C57BL/6J
  • homeostasis/metabolism phenotype
  • abnormal enzyme/coenzyme activity
    • beta-glucosidase 2 (Gba2) activity is reduced by ~50-85% in testes and liver   (MGI Ref ID J:114991)
    • bile acid glucosyltransferase activity is undetectable in tissues   (MGI Ref ID J:114991)
  • abnormal lipid level
    • abnormal accumulations of a glycolipid species (mixture of monohexosylceramides) is observed in testes and brains of male and female homozygotes   (MGI Ref ID J:114991)
    • small glycolipid-containing vesicles gradually accumulate within Sertoli cells in 6- and 14-month old males, but are not found in age-matched controls   (MGI Ref ID J:114991)
  • reproductive system phenotype
  • abnormal fertilization
    • sperm do not bind to egg compared to large numbers of sperm binding in wild-type   (MGI Ref ID J:114991)
  • abnormal male germ cell morphology
    • increased numbers of pyknotic germ cells are observed in seminiferous tubules   (MGI Ref ID J:114991)
    • globozoospermia
      • homozygous males have sperm with distended, round heads lacking an obvious acrosome, disordered mitochondria and dense pyknotic nuclei   (MGI Ref ID J:114991)
    • oligozoospermia
      • sperm counts are significantly lower, with percentage of mature, motile sperm in caudal epididymis similarly reduced   (MGI Ref ID J:114991)
  • abnormal seminiferous tubule morphology
    • tubules have distended lumens   (MGI Ref ID J:114991)
    • abnormal Sertoli cell morphology
      • small glycolipid-containing vesicles gradually accumulate within Sertoli cells in 6- and 14-month old males, but are not found in age-matched controls   (MGI Ref ID J:114991)
  • decreased litter size
    • average litter size is 2.8 pups compared to ~7.5-8 in heterozygous crosses and wild-type crosses   (MGI Ref ID J:114991)
  • reduced male fertility
    • when homozygous males are bred to wild-type females, only small litters (~3 pups) are produced compared to normal litters from homozygous female-wild-type male crosses   (MGI Ref ID J:114991)
  • small testis
    • testes are significantly smaller than wild-type   (MGI Ref ID J:114991)
  • endocrine/exocrine gland phenotype
  • abnormal seminiferous tubule morphology
    • tubules have distended lumens   (MGI Ref ID J:114991)
    • abnormal Sertoli cell morphology
      • small glycolipid-containing vesicles gradually accumulate within Sertoli cells in 6- and 14-month old males, but are not found in age-matched controls   (MGI Ref ID J:114991)
  • small testis
    • testes are significantly smaller than wild-type   (MGI Ref ID J:114991)
  • cellular phenotype
  • increased apoptosis
    • number of apoptotic cells in testes is significantly increased compared to wild-type   (MGI Ref ID J:114991)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Metabolism Research
Enzyme Deficiency

Reproductive Biology Research
Fertility Defects
      males only

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Gba2tm1Rus
Allele Name targeted mutation 1, David W Russell
Allele Type Targeted (Null/Knockout)
Common Name(s) Gba2-;
Mutation Made ByDr. David Russell,   Univ of Texas Southwest Med Ctr Dallas
Strain of Origin129S6/SvEvTac
Gene Symbol and Name Gba2, glucosidase beta 2
Chromosome 4
Gene Common Name(s) SPG46; bile acid;
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. [MGI Ref ID J:114991]

Genotyping

Genotyping Information

Genotyping Protocols

Gba2tm1Rusalternate1,

SEPARATED MELT


Gba2tm1Rusalternate1, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Yildiz Y; Matern H; Thompson B; Allegood JC; Warren RL; Ramirez DM; Hammer RE; Hamra FK; Matern S; Russell DW. 2006. Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J Clin Invest 116(11):2985-94. [PubMed: 17080196]  [MGI Ref ID J:114991]

Additional References

Gba2tm1Rus related

Korschen HG; Yildiz Y; Raju DN; Schonauer S; Bonigk W; Jansen V; Kremmer E; Kaupp UB; Wachten D. 2013. The non-lysosomal beta-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi. J Biol Chem 288(5):3381-93. [PubMed: 23250757]  [MGI Ref ID J:195545]

Mistry PK; Liu J; Sun L; Chuang WL; Yuen T; Yang R; Lu P; Zhang K; Li J; Keutzer J; Stachnik A; Mennone A; Boyer JL; Jain D; Brady RO; New MI; Zaidi M. 2014. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci U S A 111(13):4934-9. [PubMed: 24639522]  [MGI Ref ID J:207369]

Walden CM; Sandhoff R; Chuang CC; Yildiz Y; Butters TD; Dwek RA; Platt FM; van der Spoel AC. 2007. Accumulation of glucosylceramide in murine testis, caused by inhibition of beta-glucosidase 2: implications for spermatogenesis. J Biol Chem 282(45):32655-64. [PubMed: 17848577]  [MGI Ref ID J:126946]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, homozygous females may be bred to heterozygous males. The donating investigator reports that homozygous males have impaired fertility.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   101043 B6129SF1/J (approximate)
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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.
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