Strain Name:

129P4.Cg-Axin1Fu/J

Stock Number:

000212

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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

Former Names 129P4.Cg-AxinFu/J    (Changed: 23-NOV-05 )
Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain 129P4/RrRkJ
Donor Strain Mixed stock from Bussey Institute
GenerationN31F56p
Generation Definitions

Description
The fused mutation is dominant and generally more severe in homozygotes, but has highly varying penetrance in both the heterozygote and homozygote, to the extent that some homozygotes do not have an abnormal phenotype. Phenotypic traits of mice carrying the Axin1Fu allele include shortened, bifurcated, or absent tails, kinked tails with fused vertebrae, other asymmetrical fusions of vertebrae, axial duplications, and ribs fused at the proximal ends. Imperforate anus, anemia at birth, waltzing movement, deafness, and missing or abnormal kidneys have also been reported. Both heterozygotes and homozygotes are generally fertile although female carriers transmit with a lower penetrance than males do. (Reed, 1936; Dunn and Gluecksohn-Waelsch, 1954; Theiler and Gluecksohn-Waelsch, 1956.)

Development
Fused (Axin1Fu) arose in stocks at the Bussy Institute at Harvard prior to 1931. It was first maintained at The Jackson Laboratory by Dr. Leroy Stevens in 1958 on a 129 background. It was then taken by Dr. Meredith Runner and maintained on the 129RrDg background to N31 in 1967. During this time it was bred by backcrossing a fused heterozygous male to a 129RrDg female. In 1967 the stock was maintained by Dr. Margaret Green, and was inbred by mating a heterozygous affected male to a normal non-fused female sibling. It was cryopreserved in 1985 by mating heterozygous expressing males to +/+ females or vice versa at N31F55.

Control Information

  Control
   Untyped from the colony
   001198 129P4/RrRkJ
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Axin1
008885   B6.Cg-Axin1Fu-Tg1/CosMmjax
016998   B6.Cg-Tg(TetO-Axin1,EGFP)TA6Cos/J
View Strains carrying other alleles of Axin1     (2 strains)

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.
Caudal Duplication Anomaly   (AXIN1)
Hepatocellular Carcinoma   (AXIN1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Axin1Fu/Axin1+

        129P4.Cg-Axin1Fu/J
  • cellular phenotype
  • genetic imprinting
    • severity of phenotype is transmitted, particularly through males   (MGI Ref ID J:82396)
    • maternal imprinting
      • penetrant heterozygous dams transmit 46% penetrant and 54% silent offspring and non-penetrant heterozygous dams transmit 30% penetrant and 70% silent offspring   (MGI Ref ID J:82396)
    • paternal imprinting
      • penetrant heterozygous sires transmit 76% penetrant offspring while non-penetrant heterozygous sires transmit only 60% penetrant offspring.   (MGI Ref ID J:82396)
      • the LTR/intron 6 region is heavily methylated in non-penetrant heterozygotes and relatively hypomethylated in penetrant heterozygotes   (MGI Ref ID J:82396)

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

Axin1Fu/Axin1+

        Background Not Specified
  • skeleton phenotype
  • abnormal axial skeleton morphology   (MGI Ref ID J:12953)
    • abnormal craniofacial bone morphology
      • various dysmorphology can occur   (MGI Ref ID J:12112)
    • abnormal vertebrae morphology   (MGI Ref ID J:12953)
      • abnormal caudal vertebrae morphology   (MGI Ref ID J:12953)
        • decreased caudal vertebrae number   (MGI Ref ID J:12953)
    • absent ribs
      • number absent and frequency of absence is variable   (MGI Ref ID J:12953)
    • rib fusion
      • number of ribs fused and location are variable   (MGI Ref ID J:12953)
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology
    • reduction in hind leg may occur   (MGI Ref ID J:12953)
  • abnormal tail morphology
    • tail length may be variable   (MGI Ref ID J:12953)
    • bifurcated tail is seen infrequently   (MGI Ref ID J:12953)
    • abnormal caudal vertebrae morphology   (MGI Ref ID J:12953)
      • decreased caudal vertebrae number   (MGI Ref ID J:12953)
  • behavior/neurological phenotype
  • circling
    • variable expression   (MGI Ref ID J:242)
  • hearing/vestibular/ear phenotype
  • deafness
    • associated with circling behavior   (MGI Ref ID J:242)
  • craniofacial phenotype
  • abnormal craniofacial bone morphology
    • various dysmorphology can occur   (MGI Ref ID J:12112)
  • renal/urinary system phenotype
  • abnormal kidney development   (MGI Ref ID J:12112)
  • absent kidney
    • one or both kidneys and ureters may be missing   (MGI Ref ID J:12112)
  • urethra atresia
    • imperforate urethra possible   (MGI Ref ID J:12112)
  • digestive/alimentary phenotype
  • rectal atresia
    • imperforate rectum possible   (MGI Ref ID J:12112)
  • other phenotype
  • maternal effect
    • offspring of heterozygous and homozygous Axin1Fu mothers are less likely to express abnormalities than offspring of homozygous wild-type mothers   (MGI Ref ID J:12953)

Axin1Fu/Axin1+

        involves: C57BL/6J * CBA/Lac
  • cellular phenotype
  • paternal imprinting
    • Penetrance of the fused phenotype is decreased when transmitted from males injected with hydrocortisone acetate prior to breeding.   (MGI Ref ID J:133043)

Axin1Fu/Axin1+

        involves: 129/Rr * C3H/He * C57BL/6J
  • cellular phenotype
  • genetic imprinting
    • penetrance is reduced when transmitted from males, rather than females, when the fused carrier parent is of a mixed 129/Rr and C3H/He background and the non-carrier parent is a tufted homozygote on the C57BL/6J background   (MGI Ref ID J:6577)
    • paternal imprinting   (MGI Ref ID J:6577)

Axin1Fu/Axin1+

        involves: 129/Rr * C3H/He * C57BL/6J * wild
  • cellular phenotype
  • genetic imprinting
    • a homozygote on a mixed background transmits lower penetrance of fused when bred to a wild mouse from the environs of Novosibirsk than when bred to a C3H mouse   (MGI Ref ID J:6577)

Axin1Fu/Axin1+

        involves: 129P4/RrRk * TF/Le
  • normal phenotype
  • reversion by viral sequence excision
    • many instances of non-expression of the fused phenotype are not due to redueced penetrance but rather to spontaneous viral excision   (MGI Ref ID J:68896)

Axin1Fu/Axin1+

        involves: M. m. bactrianus
  • normal phenotype
  • no abnormal phenotype detected
    • dominant skeletal abnormalities are not observed in mice of this genotype and background   (MGI Ref ID J:12953)

Axin1Fu/Axin1Fu

        Background Not Specified
  • behavior/neurological phenotype
  • circling
    • variable expression   (MGI Ref ID J:242)
  • craniofacial phenotype
  • abnormal craniofacial bone morphology
    • various dysmorphology can occur   (MGI Ref ID J:242)
    • more frequent in homozygotes   (MGI Ref ID J:242)
  • digestive/alimentary phenotype
  • rectal atresia
    • imperforate rectum possible   (MGI Ref ID J:12112)
  • hearing/vestibular/ear phenotype
  • deafness
    • seen in mouse with circling behavior   (MGI Ref ID J:242)
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology
    • reduction in hind leg may occur   (MGI Ref ID J:12953)
    • more frequent in homozygote   (MGI Ref ID J:12953)
  • abnormal tail morphology
    • homozygotes are likely to have shorter tails than heterozygotes   (MGI Ref ID J:12953)
    • homozygotes are more likely to have bifurcated tails than heterozygotes   (MGI Ref ID J:12953)
    • mitotic gene conversion events during early development produce mosaicism, an explanation for variable tail phenotype expression   (MGI Ref ID J:67881)
    • abnormal caudal vertebrae morphology   (MGI Ref ID J:12953)
      • decreased caudal vertebrae number   (MGI Ref ID J:12953)
  • renal/urinary system phenotype
  • abnormal kidney development   (MGI Ref ID J:12112)
  • absent kidney
    • one or both kidneys and ureters may be missing   (MGI Ref ID J:12953)
  • urethra atresia
    • imperforate urethra possible   (MGI Ref ID J:12112)
  • skeleton phenotype
  • abnormal axial skeleton morphology   (MGI Ref ID J:12953)
    • abnormal craniofacial bone morphology
      • various dysmorphology can occur   (MGI Ref ID J:242)
      • more frequent in homozygotes   (MGI Ref ID J:242)
    • abnormal vertebrae morphology   (MGI Ref ID J:12953)
      • abnormal caudal vertebrae morphology   (MGI Ref ID J:12953)
        • decreased caudal vertebrae number   (MGI Ref ID J:12953)
    • absent ribs
      • number absent and frequency of absence is variable   (MGI Ref ID J:12953)
    • rib fusion
      • number of ribs fused and location are variable   (MGI Ref ID J:12953)
  • other phenotype
  • maternal effect
    • offspring of homozygous or heterozygous Axin1Fu mothers are less likely to express abnormalities than offspring of homozygous wild-type mothers   (MGI Ref ID J:12953)
View Research Applications

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

Axin1Fu related

Cell Biology Research
Signal Transduction

Developmental Biology Research
Imprinting
Internal/Organ Defects
      kidney
Neural Tube Defects
Skeletal Defects

Neurobiology Research
Hearing Defects
Neural Tube Defects

Research Tools
Genetics Research

Sensorineural Research
Hearing Defects

Virology Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Axin1Fu
Allele Name fused
Allele Type Spontaneous
Common Name(s) Fu; Tf;
Strain of OriginBussey Institution stock
Gene Symbol and Name Axin1, axin 1
Chromosome 17
Gene Common Name(s) AI316800; AXIN; Fu; Kb; Ki; PPP1R49; expressed sequence AI316800; fused; kinky; knobbly;
General Note Gametic imprinting has been detected for Axin1Fu (J:11139), and the locus may be affected by inherited inactivation (J:6577). Penetrance is affected by the genetic background, although expressivity is not. A suppressor gene in C57BL/6 decreases the penetrance of Axin1Fu in hybrids (J:11139). The suppressor gene did not affect penetrance of Axin1Fu in mice chimeric between C57BL/6 and a stock carrying Axin1Fu (J:19657).
Molecular Note The mutation is an IAP retrotransposon insertion within the sixth intron that results in the production of wild-type transcripts as well as mutant transcripts that initiate at both the authentic promoter and the 3'-most long terminal repeat of the insertion. [MGI Ref ID J:41619] [MGI Ref ID J:43298] [MGI Ref ID J:72363]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Fagotto F; Jho Eh; Zeng L; Kurth T; Joos T; Kaufmann C; Costantini F. 1999. Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization. J Cell Biol 145(4):741-56. [PubMed: 10330403]  [MGI Ref ID J:55044]

Flood WD; Ruvinsky A. 2001. Alternative splicing and expressivity of the AxinFu allele in mice. Heredity 87(Pt 2):146-52. [PubMed: 11703504]  [MGI Ref ID J:72363]

Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169]  [MGI Ref ID J:82396]

Redina OE; Zhelezova AI; Golubitsa AN; Agulnik AI; Ruvinsky AO. 1994. Phenotypic expression of the fused (Fu) gene in chimaeric mice. Genet Res 63(3):183-7. [PubMed: 8082835]  [MGI Ref ID J:19657]

Ruvinsky A; Flood WD; Zhang T; Costantini F. 2000. Unusual inheritance of the AxinFu mutation in mice is associated with widespread rearrangements in the proximal region of chromosome 17. Genet Res 76(2):135-47. [PubMed: 11132407]  [MGI Ref ID J:68896]

Ruvinsky AO; Agulnik AI. 1990. Gametic imprinting and the manifestation of the fused gene in the house mouse. Dev Genet 11(4):263-9. [PubMed: 2090373]  [MGI Ref ID J:11139]

Sakanaka C; Williams LT. 1999. Functional domains of axin. Importance of the C terminus as an oligomerization domain. J Biol Chem 274(20):14090-3. [PubMed: 10318824]  [MGI Ref ID J:54993]

Zeng L; Fagotto F; Zhang T; Hsu W; Vasicek TJ; Perry WL 3rd ; Lee JJ ; Tilghman SM ; Gumbiner BM ; Costantini F. 1997. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90(1):181-92. [PubMed: 9230313]  [MGI Ref ID J:41619]

Axin1Fu related

Belyaev DK; Ruvinsky AO; Agulnik AI; Agulnik SI. 1983. Effect of hydrocortisone on the phenotypic expression and inhertance of the Fused gene in mice Theor Appl Genet 64:275-281.  [MGI Ref ID J:133043]

Belyaev DK; Ruvinsky AO; Borodin PM. 1981. Inheritance of alternative states of the fused gene in mice. J Hered 72(2):107-12. [PubMed: 7276510]  [MGI Ref ID J:6577]

Dunn LC. 1937. A third lethal in the T(Brachy) series in the house mouse Proc Natl Acad Sci U S A 23(9):474-77. [PubMed: 16577797]  [MGI Ref ID J:84718]

Dunn LC; Caspari E. 1945. A Case of Neighboring Loci with Similar Effects. Genetics 30(6):543-68. [PubMed: 17247179]  [MGI Ref ID J:242]

Dunn LC; Gluecksohn-Waelsch S. 1954. A genetical study of the mutation "fused" in the house mouse, with evidence concerning its allelism with a similar mutation "kink". J Genet 52:383-91.  [MGI Ref ID J:244]

Fernandez-Gonzalez R; Ramirez MA; Pericuesta E; Calle A; Gutierrez-Adan A. 2010. Histone modifications at the blastocyst Axin1 Fu locus mark the heritability of in vitro culture-induced epigenetic alterations in mice. Biol Reprod 83(5):720-7. [PubMed: 20650886]  [MGI Ref ID J:168365]

Flood WD; Ruvinsky A. 2001. Alternative splicing and expressivity of the AxinFu allele in mice. Heredity 87(Pt 2):146-52. [PubMed: 11703504]  [MGI Ref ID J:72363]

Lu Z; Liu W; Huang H; He Y; Han Y; Rui Y; Wang Y; Li Q; Ruan K; Ye Z; Low BC; Meng A; Lin SC. 2008. Protein encoded by the Axin(Fu) allele effectively down-regulates Wnt signaling but exerts a dominant negative effect on c-Jun N-terminal kinase signaling. J Biol Chem 283(19):13132-9. [PubMed: 18316368]  [MGI Ref ID J:137089]

Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169]  [MGI Ref ID J:82396]

Redina OE; Zhelezova AI; Golubitsa AN; Agulnik AI; Ruvinsky AO. 1994. Phenotypic expression of the fused (Fu) gene in chimaeric mice. Genet Res 63(3):183-7. [PubMed: 8082835]  [MGI Ref ID J:19657]

Reed SC. 1937. The Inheritance and Expression of Fused, a New Mutation in the House Mouse. Genetics 22(1):1-13. [PubMed: 17246824]  [MGI Ref ID J:12953]

Rosenfeld CS. 2010. Animal models to study environmental epigenetics. Biol Reprod 82(3):473-88. [PubMed: 19828779]  [MGI Ref ID J:159558]

Ruvinsky A; Flood W; Costantini F. 2001. Developmental mosaicism may explain spontaneous reappearance of the Axin(Fu) mutation in mice. Genesis 29(2):49-54. [PubMed: 11170344]  [MGI Ref ID J:67881]

Ruvinsky A; Flood WD; Zhang T; Costantini F. 2000. Unusual inheritance of the AxinFu mutation in mice is associated with widespread rearrangements in the proximal region of chromosome 17. Genet Res 76(2):135-47. [PubMed: 11132407]  [MGI Ref ID J:68896]

Ruvinsky AO; Agulnik AI. 1990. Gametic imprinting and the manifestation of the fused gene in the house mouse. Dev Genet 11(4):263-9. [PubMed: 2090373]  [MGI Ref ID J:11139]

THEILER K; GLUECKSOHN-WAELSCH S. 1956. The morphological effects and the development of the fused mutation in the mouse. Anat Rec 125(1):83-103. [PubMed: 13340237]  [MGI Ref ID J:12112]

Vasicek TJ; Zeng L; Guan XJ; Zhang T; Costantini F; Tilghman SM. 1997. Two dominant mutations in the mouse fused gene are the result of transposon insertions. Genetics 147(2):777-86. [PubMed: 9335612]  [MGI Ref ID J:43298]

Waterland RA; Dolinoy DC; Lin JR; Smith CA; Shi X; Tahiliani KG. 2006. Maternal methyl supplements increase offspring DNA methylation at Axin Fused. Genesis 44(9):401-6. [PubMed: 16868943]  [MGI Ref ID J:114473]

Zeng L; Fagotto F; Zhang T; Hsu W; Vasicek TJ; Perry WL 3rd ; Lee JJ ; Tilghman SM ; Gumbiner BM ; Costantini F. 1997. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90(1):181-92. [PubMed: 9230313]  [MGI Ref ID J:41619]

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* $3175.00
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 11 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* $4127.50
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 11 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
   Untyped from the colony
   001198 129P4/RrRkJ
 
  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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