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. Visit our online Nomenclature tutorial. Species laboratory mouse Generation B6129N1 F3   Donating Investigator Edward Ginns,   National Institutes of Health

Appearance
white-bellied agouti
Related Genotype: A^w/A^w

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
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying   Gba^tm1Nsb allele

003321

B6.129S6-Gbatm1Nsb/J

View Strains carrying   Gba^tm1Nsb     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Gaucher Disease, Type II - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Gba^tm1Nsb/Gba^tm1Nsb

        involves: 129S/SvEv * C57BL/6

• lethality-prenatal/perinatal
• perinatal lethality (MGI Ref ID J:1100)
• behavior/neurological phenotype
• abnormal food intake (MGI Ref ID J:1100)
  • decreased feeding
• akinesia (MGI Ref ID J:1100)
• growth/size phenotype
• reduced fetal size (MGI Ref ID J:1100)
  • underweight, evident at birth
• hematopoietic system phenotype
• abnormal macrophage morphology (MGI Ref ID J:1100)
  • macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation
• homeostasis/metabolism phenotype
• cyanosis (MGI Ref ID J:1100)
• immune system phenotype
• abnormal macrophage morphology (MGI Ref ID J:1100)
  • macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation
• respiratory system phenotype
• abnormal respiration (MGI Ref ID J:1100)
  • respire abnormally from birth

View Research Applications

Research Applications

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

Gba^tm1Nsb related

Dermatology Research
Skin and Hair Texture Defects

Mouse/Human Gene Homologs
Gaucher disease, type I

Genes & Alleles

Gene & Allele Information

Allele Symbol		Gbatm1Nsb
Allele Name		targeted mutation 1, Edward Ginns
Allele Type		Targeted (knock-out)
Mutation Made By		Edward Ginns,   National Institutes of Health
Strain of Origin		129S/SvEv-Gpi1c
ES Cell Line Name		CCE/EK.CCE
ES Cell Line Strain		129S/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).
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

Gba^tm1Nsb, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

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]

Gba^tm1Nsb 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]

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]

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; 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

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the 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 for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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Ordering and Purchasing Information

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Contact Information
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Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

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