Strain Name:

B6.129S6-Gbatm1Nsb/J

Stock Number:

003321

Order this mouse

Availability:

Cryopreserved - Ready for recovery

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 Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain 129S6 via EK.CCE ES cell line
 
Donating Investigator The Jackson Laboratory,  

Appearance
black
Related Genotype: a/a

Description
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.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Gbatm1Nsb allele
002594   B6;129S6-Gbatm1Nsb/J
View Strains carrying   Gbatm1Nsb     (1 strain)

Strains carrying other alleles of Gba
021329   B6.129-Gbatm1Clk/J
019106   C57BL/6N-Gbatm1.1Mjff/J
View Strains carrying other alleles of Gba     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Gaucher Disease, Type II
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Dementia, Lewy Body; DLB   (GBA)
Gaucher Disease, Perinatal Lethal   (GBA)
Gaucher Disease, Type I   (GBA)
Gaucher Disease, Type III   (GBA)
Gaucher Disease, Type IIIC   (GBA)
Parkinson Disease, Late-Onset; PD   (GBA)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Gbatm1Nsb/Gbatm1Nsb

        involves: 129S/SvEv * C57BL/6
  • mortality/aging
  • perinatal lethality   (MGI Ref ID J:1100)
  • behavior/neurological phenotype
  • abnormal food intake
    • decreased feeding   (MGI Ref ID J:1100)
  • akinesia   (MGI Ref ID J:1100)
  • growth/size/body phenotype
  • decreased birth weight
    • underweight, evident at birth   (MGI Ref ID J:1100)
  • hematopoietic system phenotype
  • abnormal macrophage morphology
    • macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation   (MGI Ref ID J:1100)
  • homeostasis/metabolism phenotype
  • cyanosis   (MGI Ref ID J:1100)
  • immune system phenotype
  • abnormal macrophage morphology
    • macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation   (MGI Ref ID J:1100)
  • respiratory system phenotype
  • abnormal respiration
    • respire abnormally from birth   (MGI Ref ID J:1100)
View Research Applications

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

Gbatm1Nsb related

Dermatology Research
Skin and Hair Texture Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Gbatm1Nsb
Allele Name targeted mutation 1, Edward Ginns
Allele Type Targeted (Null/Knockout)
Mutation Made ByDr. Edward Ginns,   University of Massachusetts Medical School
Strain of Origin129S/SvEv-Gpi1
ES Cell Line NameCCE/EK.CCE
ES Cell Line Strain129S/SvEv-Gpi1
Gene Symbol and Name Gba, glucosidase, beta, acid
Chromosome 3
Gene Common Name(s) GBA1; GC; GCB; GCase; GLUC; betaGC; glucocerebrosidase;
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. [MGI Ref ID J:1100]

Genotyping

Genotyping Information

Genotyping Protocols

Gbatm1Nsb, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Tybulewicz VL; Tremblay ML; LaMarca ME; Willemsen R; Stubblefield BK; Winfield S; Zablocka B; Sidransky E; Martin BM; Huang SP; Mintzer KA; Westphal H; Mulligan RC; Ginns EI. 1992. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357(6377):407-10. [PubMed: 1594045]  [MGI Ref ID J:1100]

Additional References

Willemsen R; Tybulewicz V; Sidransky E; Eliason WK; Martin BM; LaMarca ME; Reuser AJ; Tremblay M; Westphal H; Mulligan RC; Ginns EI. 1995. A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol Chem Neuropathol 24(2-3):179-92. [PubMed: 7632321]  [MGI Ref ID J:26608]

Gbatm1Nsb related

Bornstein P; McKinney CE; LaMarca ME; Winfield S; Shingu T; Devarayalu S; Vos HL; Ginns EI. 1995. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A 92(10):4547-51. [PubMed: 7753840]  [MGI Ref ID J:25197]

Farfel-Becker T; Vitner EB; Futerman AH. 2011. Animal models for Gaucher disease research. Dis Model Mech 4(6):746-52. [PubMed: 21954067]  [MGI Ref ID J:177669]

Holleran WM; Ginns EI; Menon GK; Grundmann JU; Fartasch M; McKinney CE; Elias PM; Sidransky E. 1994. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 93(4):1756-64. [PubMed: 8163674]  [MGI Ref ID J:17577]

Kim EY; Hong YB; Go SH; Lee B; Jung SC. 2006. Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease. Exp Mol Med 38(4):348-56. [PubMed: 16953113]  [MGI Ref ID J:115894]

Orvisky E; Sidransky E; McKinney CE; Lamarca ME; Samimi R; Krasnewich D; Martin BM; Ginns EI. 2000. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res 48(2):233-7. [PubMed: 10926300]  [MGI Ref ID J:102303]

Pandey MK; Jabre NA; Xu YH; Zhang W; Setchell KD; Grabowski GA. 2014. Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model. Mol Genet Metab 111(2):163-71. [PubMed: 24079945]  [MGI Ref ID J:211409]

Pandey MK; Rani R; Zhang W; Setchell K; Grabowski GA. 2012. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab 106(3):310-22. [PubMed: 22595426]  [MGI Ref ID J:185359]

Sun Y; Zhang W; Xu YH; Quinn B; Dasgupta N; Liou B; Setchell KD; Grabowski GA. 2013. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS One 8(3):e57560. [PubMed: 23520473]  [MGI Ref ID J:200186]

Willemsen R; Tybulewicz V; Sidransky E; Eliason WK; Martin BM; LaMarca ME; Reuser AJ; Tremblay M; Westphal H; Mulligan RC; Ginns EI. 1995. A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol Chem Neuropathol 24(2-3):179-92. [PubMed: 7632321]  [MGI Ref ID J:26608]

Xu YH; Jia L; Quinn B; Zamzow M; Stringer K; Aronow B; Sun Y; Zhang W; Setchell KD; Grabowski GA. 2011. Global gene expression profile progression in Gaucher disease mouse models. BMC Genomics 12:20. [PubMed: 21223590]  [MGI Ref ID J:168578]

Xu YH; Quinn B; Witte D; Grabowski GA. 2003. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol 163(5):2093-101. [PubMed: 14578207]  [MGI Ref ID J:86334]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

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
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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The Jackson Laboratory's Genotype Promise

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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"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

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