Strain Name:

B6;129-Glatm1Kul wblo/GrsrJ

Stock Number:

012625

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Mice both homozygous for the wblo mutation and homozygous or hemizyogus for the Glatm1Kul mutation develop a wobbly gait by approximately 5 weeks of age that decreases in severity with age.

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; Spontaneous Mutation; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN1F6
Generation Definitions

Description
Mice both homozygous for the wblo mutation and homozygous or hemizyogus for the Glatm1Kul mutation develop a wobbly gait by approximately 5 weeks of age that decreases in severity with age.

Development
The wblo mutation arose spontaneously in the homozyogus strain B6;129-Glatm1Kul/J. One backcross to C57BL/6J was done and then the offspring were sibling intercrossed. The resulting strain is still homozygous for the X-linked Glatm1Kul mutation and maintained segregating for the recessive wblo mutation.

Control Information

  Control
   See control note: Homozygous for Glatm1Kul, Heterozygous for wblo (Females)
Hemizygous for Glatm1Kul, Heterozygous for wblo (Males)
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Glatm1Kul allele
003535   B6;129-Glatm1Kul/J
View Strains carrying   Glatm1Kul     (1 strain)

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.
Fabry Disease   (GLA)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Glatm1Kul/Glatm1Kul wblo/wblo

        B6;129-Glatm1Kul wblo/GrsrJ
  • behavior/neurological phenotype
  • abnormal gait
    • a wobbly gait from impaired coordination of movement is first observed at approximately 5 weeks of age and becomes less severe in the adult   (MGI Ref ID J:159015)

Glatm1Kul/Y wblo/wblo

        B6;129-Glatm1Kul wblo/GrsrJ
  • behavior/neurological phenotype
  • abnormal gait
    • a wobbly gait from impaired coordination of movement is first observed at approximately 5 weeks of age and becomes less severe in the adult   (MGI Ref ID J:159015)
View Research Applications

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

Neurobiology Research
Ataxia (Movement) Defects

Glatm1Kul related

Metabolism Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Glatm1Kul
Allele Name targeted mutation 1, Ashok B Kulkarni
Allele Type Targeted (Null/Knockout)
Common Name(s) Gla-; alpha-Gal A -/0; alpha-galA-;
Mutation Made By Ashok Kulkarni,   NIDCR NIH
Strain of Origin129S4/SvJae
ES Cell Line NameJ1
ES Cell Line Strain129S4/SvJae
Gene Symbol and Name Gla, galactosidase, alpha
Chromosome X
Gene Common Name(s) Ags; GALA; alpha-galactosidase;
Molecular Note A 1kb genomic fragment containing part of exon 3 and intron 3 was replaced by a neomycin resistance cassette. [MGI Ref ID J:39394]
 
Allele Symbol wblo
Allele Name wobbly locomotion
Allele Type Spontaneous
Strain of OriginB6;129-Glatm1Kul/J
Gene Symbol and Name wblo, wobbly locomotion
Chromosome 6
Molecular Note This spontaneous mutation was identified at The Jackson Laboratory.

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Glatm1Kul related

Abe A; Gregory S; Lee L; Killen PD; Brady RO; Kulkarni A; Shayman JA. 2000. Reduction of globotriaosylceramide in fabry disease mice by substrate deprivation J Clin Invest 105(11):1563-71. [PubMed: 10841515]  [MGI Ref ID J:62764]

Aerts JM; Groener JE; Kuiper S; Donker-Koopman WE; Strijland A; Ottenhoff R; van Roomen C; Mirzaian M; Wijburg FA; Linthorst GE; Vedder AC; Rombach SM; Cox-Brinkman J; Somerharju P; Boot RG; Hollak CE; Brady RO; Poorthuis BJ. 2008. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105(8):2812-7. [PubMed: 18287059]  [MGI Ref ID J:132814]

Balreira A; Macedo MF; Girao C; Rodrigues LG; Oliveira JP; Sa Miranda MC; Arosa FA. 2008. Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients. Br J Haematol 143(4):601-4. [PubMed: 18986392]  [MGI Ref ID J:145615]

Bodary PF; Shen Y; Vargas FB; Bi X; Ostenso KA; Gu S; Shayman JA; Eitzman DT. 2005. Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency Circulation 111(5):629-32. [PubMed: 15668341]  [MGI Ref ID J:108541]

Boskey AL; Goldberg M; Kulkarni A; Gomez S. 2006. Infrared imaging microscopy of bone: illustrations from a mouse model of Fabry disease. Biochim Biophys Acta 1758(7):942-7. [PubMed: 16697974]  [MGI Ref ID J:115866]

Cilmi SA; Karalius BJ; Choy W; Smith RN; Butterton JR. 2006. Fabry disease in mice protects against lethal disease caused by Shiga toxin-expressing enterohemorrhagic Escherichia coli. J Infect Dis 194(8):1135-40. [PubMed: 16991089]  [MGI Ref ID J:147262]

Darmoise A; Teneberg S; Bouzonville L; Brady RO; Beck M; Kaufmann SH; Winau F. 2010. Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells. Immunity 33(2):216-28. [PubMed: 20727792]  [MGI Ref ID J:163911]

Durant B; Forni S; Sweetman L; Brignol N; Meng XL; Benjamin ER; Schiffmann R; Shen JS. 2011. Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice. J Lipid Res 52(9):1742-6. [PubMed: 21747096]  [MGI Ref ID J:175547]

Eitzman DT; Bodary PF; Shen Y; Khairallah CG; Wild SR; Abe A; Shaffer-Hartman J; Shayman JA. 2003. Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. J Am Soc Nephrol 14(2):298-302. [PubMed: 12538729]  [MGI Ref ID J:103145]

Gadola SD; Silk JD; Jeans A; Illarionov PA; Salio M; Besra GS; Dwek R; Butters TD; Platt FM; Cerundolo V. 2006. Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases. J Exp Med 203(10):2293-303. [PubMed: 16982810]  [MGI Ref ID J:124639]

Ishii S; Yoshioka H; Mannen K; Kulkarni AB; Fan JQ. 2004. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim Biophys Acta 1690(3):250-7. [PubMed: 15511632]  [MGI Ref ID J:115497]

Itoh Y; Esaki T; Cook M; Qasba P; Shimoji K; Alroy J; Brady RO; Sokoloff L; Moore DF. 2001. Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease. J Neurochem 79(6):1217-24. [PubMed: 11752062]  [MGI Ref ID J:73481]

Kang JJ; Shu L; Park JL; Shayman JA; Bodary PF. 2014. Endothelial nitric oxide synthase uncoupling and microvascular dysfunction in the mesentery of mice deficient in alpha-galactosidase A. Am J Physiol Gastrointest Liver Physiol 306(2):G140-6. [PubMed: 24232002]  [MGI Ref ID J:210905]

Karst SY; Ward-Bailey PF; Berstrom DE; Donahue LR; Davisson-Fahey MT. 2010. Wobbly locomotion; a new neurological mutation causing an abnormal gait MGI Direct Data Submission :.  [MGI Ref ID J:159015]

Khanna R; Soska R; Lun Y; Feng J; Frascella M; Young B; Brignol N; Pellegrino L; Sitaraman SA; Desnick RJ; Benjamin ER; Lockhart DJ; Valenzano KJ. 2010. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 18(1):23-33. [PubMed: 19773742]  [MGI Ref ID J:201188]

Macedo MF; Quinta R; Pereira CS; Sa Miranda MC. 2012. Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model. Mol Genet Metab 106(1):83-91. [PubMed: 22425450]  [MGI Ref ID J:183390]

Marshall J; Ashe KM; Bangari D; McEachern K; Chuang WL; Pacheco J; Copeland DP; Desnick RJ; Shayman JA; Scheule RK; Cheng SH. 2010. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One 5(11):e15033. [PubMed: 21124789]  [MGI Ref ID J:167321]

Meng XL; Shen JS; Kawagoe S; Ohashi T; Brady RO; Eto Y. 2010. Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders. Proc Natl Acad Sci U S A 107(17):7886-91. [PubMed: 20385825]  [MGI Ref ID J:159373]

Moore DF; Gelderman MP; Ferreira PA; Fuhrmann SR; Yi H; Elkahloun A; Lix LM; Brady RO; Schiffmann R; Goldin E. 2007. Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach. Proc Natl Acad Sci U S A 104(19):8065-70. [PubMed: 17470787]  [MGI Ref ID J:121587]

Nguyen Dinh Cat A; Escoubet B; Agrapart V; Griol-Charhbili V; Schoeb T; Feng W; Jaimes E; Warnock DG; Jaisser F. 2012. Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease. PLoS One 7(5):e33743. [PubMed: 22574107]  [MGI Ref ID J:187258]

Noben-Trauth K; Neely H; Brady RO. 2007. Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease. Hear Res 234(1-2):10-4. [PubMed: 17933476]  [MGI Ref ID J:127432]

Ohashi T; Iizuka S; Ida H; Eto Y. 2008. Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Mol Genet Metab 94(3):313-8. [PubMed: 18456533]  [MGI Ref ID J:137548]

Ohshima T; Murray GJ; Swaim WD; Longenecker G; Quirk JM; Cardarelli CO; Sugimoto Y; Pastan I; Gottesman MM; Brady RO; Kulkarni AB. 1997. alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A 94(6):2540-4. [PubMed: 9122231]  [MGI Ref ID J:39394]

Ohshima T; Schiffmann R; Murray GJ; Kopp J; Quirk JM; Stahl S; Chan CC; Zerfas P; Tao-Cheng JH; Ward JM; Brady RO; Kulkarni AB. 1999. Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. Proc Natl Acad Sci U S A 96(11):6423-7. [PubMed: 10339603]  [MGI Ref ID J:110917]

Park JL; Shu L; Shayman JA. 2009. Differential involvement of COX1 and COX2 in the vasculopathy associated with the alpha-galactosidase A-knockout mouse. Am J Physiol Heart Circ Physiol 296(4):H1133-40. [PubMed: 19202000]  [MGI Ref ID J:150899]

Park S; Kim JA; Joo KY; Choi S; Choi EN; Shin JA; Han KH; Jung SC; Suh SH. 2011. Globotriaosylceramide leads to K(Ca)3.1 channel dysfunction: a new insight into endothelial dysfunction in Fabry disease. Cardiovasc Res 89(2):290-9. [PubMed: 20971723]  [MGI Ref ID J:186885]

Porubsky S; Speak AO; Salio M; Jennemann R; Bonrouhi M; Zafarulla R; Singh Y; Dyson J; Luckow B; Lehuen A; Malle E; Muthing J; Platt FM; Cerundolo V; Grone HJ. 2012. Globosides but not isoglobosides can impact the development of invariant NKT cells and their interaction with dendritic cells. J Immunol 189(6):3007-17. [PubMed: 22875802]  [MGI Ref ID J:189359]

Rodrigues LG; Ferraz MJ; Rodrigues D; Pais-Vieira M; Lima D; Brady RO; Sousa MM; Sa-Miranda MC. 2009. Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice. Neurobiol Dis 33(1):48-56. [PubMed: 18848893]  [MGI Ref ID J:144595]

Shen Y; Bodary PF; Vargas FB; Homeister JW; Gordon D; Ostenso KA; Shayman JA; Eitzman DT. 2006. Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation. Stroke 37(4):1106-8. [PubMed: 16514103]  [MGI Ref ID J:135765]

Shiozuka C; Taguchi A; Matsuda J; Noguchi Y; Kunieda T; Uchio-Yamada K; Yoshioka H; Hamanaka R; Yano S; Yokoyama S; Mannen K; Kulkarni AB; Furukawa K; Ishii S. 2011. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease. J Biochem 149(2):161-70. [PubMed: 20961863]  [MGI Ref ID J:209274]

Shu L; Park JL; Byun J; Pennathur S; Kollmeyer J; Shayman JA. 2009. Decreased nitric oxide bioavailability in a mouse model of Fabry disease. J Am Soc Nephrol 20(9):1975-85. [PubMed: 19628671]  [MGI Ref ID J:166329]

Shu L; Shayman JA. 2007. Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice. J Biol Chem 282(29):20960-7. [PubMed: 17535804]  [MGI Ref ID J:124604]

Taguchi A; Maruyama H; Nameta M; Yamamoto T; Matsuda J; Kulkarni AB; Yoshioka H; Ishii S. 2013. A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis. Biochem J 456(3):373-83. [PubMed: 24094090]  [MGI Ref ID J:206001]

Tajima Y; Kawashima I; Tsukimura T; Sugawara K; Kuroda M; Suzuki T; Togawa T; Chiba Y; Jigami Y; Ohno K; Fukushige T; Kanekura T; Itoh K; Ohashi T; Sakuraba H. 2009. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. Am J Hum Genet 85(5):569-80. [PubMed: 19853240]  [MGI Ref ID J:158195]

Takenaka T; Murray GJ; Qin G; Quirk JM; Ohshima T; Qasba P; Clark K; Kulkarni AB; Brady RO; Medin JA. 2000. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci U S A 97(13):7515-20. [PubMed: 10840053]  [MGI Ref ID J:62906]

Togawa T; Kawashima I; Kodama T; Tsukimura T; Suzuki T; Fukushige T; Kanekura T; Sakuraba H. 2010. Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease. Biochem Biophys Res Commun 399(4):716-20. [PubMed: 20692233]  [MGI Ref ID J:164895]

Young-Gqamana B; Brignol N; Chang HH; Khanna R; Soska R; Fuller M; Sitaraman SA; Germain DP; Giugliani R; Hughes DA; Mehta A; Nicholls K; Boudes P; Lockhart DJ; Valenzano KJ; Benjamin ER. 2013. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. PLoS One 8(3):e57631. [PubMed: 23472096]  [MGI Ref ID J:200202]

Zhou D; Cantu C rd; Sagiv Y; Schrantz N; Kulkarni AB; Qi X; Mahuran DJ; Morales CR; Grabowski GA; Benlagha K; Savage P; Bendelac A; Teyton L. 2004. Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins. Science 303(5657):523-7. [PubMed: 14684827]  [MGI Ref ID J:90443]

wblo related

Karst SY; Ward-Bailey PF; Berstrom DE; Donahue LR; Davisson-Fahey MT. 2010. Wobbly locomotion; a new neurological mutation causing an abnormal gait MGI Direct Data Submission :.  [MGI Ref ID J:159015]

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* $2525.00
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.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

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

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • 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* $3283.00
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.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

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

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • 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.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   See control note: Homozygous for Glatm1Kul, Heterozygous for wblo (Females)
Hemizygous for Glatm1Kul, Heterozygous for wblo (Males)
 
  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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