Strain Name:

STOCK Oca2p-d/Oca2p-25H/J

Stock Number:

001585

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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 STOCK pd/p25H/J    (Changed: 15-DEC-04 )
Type Mutant Stock; Radiation Induced Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse

Description
Oca2p-25H/Oca2p-25H mice exhibit significant dilution of coat color with pink eyes, similar in appearance to Oca2p/Oca2p mice. The Oca2p-25H phenotype also includes a slightly jerky gait with some tremor, small body size compared to control littermates, male sterility, female semisterility, and impaired maternal behavior, and the smaller-than-expected proportion of Oca2p-25H homozygous intercross offspring implies reduced prenatal viability (Lyon et al. 1992, Phillips et al. 1977). The Oca2p-25H mutation comprises an inversion of a segment of Chromsome 7 that alters the 5' end of the Oca2p gene so that no detectable ptranscript is produced, accounting for the pigment-dilution phenotype (Gardner et al. 1992). The deletion also disrupts the Herc2/rjs gene proximal to Oca2p so the transcript sequence diverges from wild-type after the first 8772 bp (of 15 kb in wild-type), resulting in a truncated protein and accounting for the non-pigment related aspects of the Oca2p-25H phenotype (Lehman et al. 1998). Mice homozygous for Oca2p-d are born with lightly pigmented eyes, darker than those of Oca2p/Oca2p mice, which darken by weaning and a coat color "considerably darkerthan that of Oca2p/Oca2p mice, somewhat resembling that of brown [Tyrp1b/Tyrp1b] mice"; both sexes are fertile (Gardner et al. 1977, Lyon et al. 1992). A normal-sized Oca2p transcript is present in eyes of Oca2p-d/Oca2p-d mice (Gardner et al. 1992), and Southern blot analysis revealed no gross alteration of the Oca2p gene (Gardner et al. 1992, Lyon et al. 1992); thus, the molecular nature of the defect is unknown. Oca2p-d/Oca2p-25H compound heterozygotes have a color phenotype intermediate between those of the two homozygotes: eyes are "lighter at birth than those of Oca2p-d/Oca2p-d mice (but not as light as those of Oca2p/Oca2p mice) and darken by weaning"; ears and tail are lighter than those of Oca2p-d/Oca2p-d mice, but coat color is indistinguishable. The compound heterozygotes exhibit no behavioral abnormalities and are fertile (Lyon et al. 1992).

Development
Both the Oca2p-d and Oca2p-25H mutations were radiation induced at the Medical Research Council Radiobiology Unit, Harwell, UK, the former by X-irradiation of the fetus and the latter by neutron irradiation of a male mouse, both of strains/stocks of unidentified lineage.

Control Information

  Control
   None Available
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Oca2p-d allele
000823   STOCK Oca2p-d/Oca2p-6H/J
001747   STOCK Oca2p-d/Oca2p-cp/J
View Strains carrying   Oca2p-d     (2 strains)

View Strains carrying other alleles of Oca2     (22 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.
Albinism, Oculocutaneous, Type II; OCA2   (OCA2)
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.

Oca2p-25H/Oca2+

        Background Not Specified
  • reproductive system phenotype
  • decreased litter size
    • intercrossed heterozygotes produce an average litter size of 5.65, smaller than the 6.49 of wildtype control breeders   (MGI Ref ID J:5219)

Oca2p-25H/Oca2p-25H

        Background Not Specified
  • pigmentation phenotype
  • decreased eye pigmentation
    • eye pigment is reduced to approximately the same color as in the original pink eye mutants   (MGI Ref ID J:5219)
  • diluted coat color
    • coat color is lighter than in the original pink eye mutants   (MGI Ref ID J:5219)
  • vision/eye phenotype
  • decreased eye pigmentation
    • eye pigment is reduced to approximately the same color as in the original pink eye mutants   (MGI Ref ID J:5219)
  • reproductive system phenotype
  • abnormal sperm flagellum morphology   (MGI Ref ID J:5219)
  • abnormal sperm head morphology   (MGI Ref ID J:5219)
    • abnormal acrosome morphology
      • electron microscopy reveals that acrosome development is frequently abnormal, the proacrosome is sometimes duplicated, the proacrosomal vesicle and underlying nuclear membrane are sometimes flattened or irregular in shape and vesicular inclusions can be seen in developing acrosomes   (MGI Ref ID J:5219)
    • enlarged sperm head   (MGI Ref ID J:5219)
  • abnormal spermatid morphology
    • many spermatids have two or more nuclei and maturing sperm have abnormalities including giant sperm with multiple tails   (MGI Ref ID J:5219)
    • a small number of multinucleated giant rounded spermatids can be found in the germinal epithelium   (MGI Ref ID J:5219)
  • decreased male germ cell number
    • fewer sperm tails are found in the lumina of the spermatic tubules indicative of a reduced number of spermatogonia and sperm   (MGI Ref ID J:5219)
  • small seminiferous tubules   (MGI Ref ID J:5219)
  • small testis
    • testes are less than half the normal size   (MGI Ref ID J:5219)
    • testis hypoplasia   (MGI Ref ID J:5219)
  • endocrine/exocrine gland phenotype
  • *normal* endocrine/exocrine gland phenotype
    • histology of mammary gland hours after giving birth and the presence of milk in the pups' stomachs indicate that females lactate normally   (MGI Ref ID J:49046)
    • small seminiferous tubules   (MGI Ref ID J:5219)
    • small testis
      • testes are less than half the normal size   (MGI Ref ID J:5219)
      • testis hypoplasia   (MGI Ref ID J:5219)
  • behavior/neurological phenotype
  • abnormal maternal nurturing
    • time lapse photography 12 to 24 hours after birth shows that homozygous mothers fail to make a nest of keep the pups together, although there is no hostility toward the pups   (MGI Ref ID J:49046)
    • females rarely have more than one litter and that litter is usually small with pups rarely surviving more than 24 hours   (MGI Ref ID J:49046)
    • abnormal pup retrieval   (MGI Ref ID J:49046)
  • impaired coordination
    • homozygotes are described as active, nervous a little uncoordinated   (MGI Ref ID J:5219)
  • nervous   (MGI Ref ID J:5219)
  • growth/size/body phenotype
  • decreased body size
    • homozygotes are smaller at birth and most weigh less as adults than their littermate controls   (MGI Ref ID J:5219)
    • decreased body weight   (MGI Ref ID J:5219)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • no malocclusion or dental defects are found   (MGI Ref ID J:5219)
  • integument phenotype
  • diluted coat color
    • coat color is lighter than in the original pink eye mutants   (MGI Ref ID J:5219)
  • cellular phenotype
  • abnormal sperm flagellum morphology   (MGI Ref ID J:5219)

Oca2p-d/Oca2p-d

        Background Not Specified
  • reproductive system phenotype
  • *normal* reproductive system phenotype
    • unlike some mutant Oca2, pink-eyed dilution alleles, this allele does not affect fertility   (MGI Ref ID J:2108)
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:15050)
    • diluted coat color
      • only slightly diluted compared with wild-type   (MGI Ref ID J:15050)
  • decreased eye pigmentation
    • only slightly pigmented at birth   (MGI Ref ID J:15082)
    • eyes darken by weaning age   (MGI Ref ID J:15082)
  • vision/eye phenotype
  • decreased eye pigmentation
    • only slightly pigmented at birth   (MGI Ref ID J:15082)
    • eyes darken by weaning age   (MGI Ref ID J:15082)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:15050)
    • diluted coat color
      • only slightly diluted compared with wild-type   (MGI Ref ID J:15050)
View Research Applications

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

Oca2p-25H related

Dermatology Research
Color and White Spotting Defects

Endocrine Deficiency Research
Hypothalamus/Pituitary Defects

Oca2p-d related

Dermatology Research
Color and White Spotting Defects

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Oca2p-25H
Allele Name pink-eyed dilution 25 Harwell
Allele Type Radiation induced
Common Name(s) Herc2p-25H; p25H;
Gene Symbol and Name Oca2, oculocutaneous albinism II
Chromosome 7
Gene Common Name(s) BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note p25H, p-25 Harwell, recessive. This allele was neutron-irradiation-induced. Homozygotes are very similar to p6H homozygotes, except that sperm morphology differs; p25H homozygous males have a lower proportion of normal sperm (J:5219, J:5501, J:15082, J:5808). The sperm shows a loss of negative charge along the whole length of the tail (defined by the inability to stain with the positively charged colloidal iron hydroxide), suggesting that the defect in spermatogenesis mayinvolve the Golgi apparatus and/or plasma membrane (J:11957). Females have reduced fertility. In addition, in p25H homozygotes of both sexes, the pars nervosa of the pituitary contains degenerating nerve axons (J:5508), and the hypothalamus has reduced binding capacity for estradiol-17 (J:5219). Mutant females can generally produce a small, first litter, but the pups often die neonatally due to poor maternal behavior, which may involve improper nesting (J:49046).
Molecular Note Southern blot analyses using cDNA probes from the pink-eyed dilution locus show that this allele comprises an inversion of a segment of Chromsome 7 that alters the 5'end of the Oca2p gene preventing transcription of p. [MGI Ref ID J:2206]
 
Allele Symbol Oca2p-d
Allele Name dark pink-eyed
Allele Type Radiation induced
Common Name(s) pd;
Gene Symbol and Name Oca2, oculocutaneous albinism II
Chromosome 7
Gene Common Name(s) BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note The molecular basis for this mutant allele has not been determined.

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Hunt DM; Johnson DR. 1971. Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse. J Embryol Exp Morphol 26(1):111-21. [PubMed: 5565073]  [MGI Ref ID J:5219]

Johnson DR; Hunt DM. 1975. Endocrinological findings in sterile pink-eyed mice. J Reprod Fertil 42(1):51-8. [PubMed: 162962]  [MGI Ref ID J:5508]

Lyon MF; King TR; Gondo Y; Gardner JM; Nakatsu Y; Eicher EM; Brilliant MH. 1992. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A 89(15):6968-72. [PubMed: 1495987]  [MGI Ref ID J:2108]

Potterf SB; Furumura M; Sviderskaya EV; Santis C; Bennett DC; Hearing VJ. 1998. Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes. Exp Cell Res 244(1):319-26. [PubMed: 9770375]  [MGI Ref ID J:50341]

Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD. 1993. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361(6407):72-6. [PubMed: 8421497]  [MGI Ref ID J:3600]

Wolfe HG. 1977. Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice. Genetics 85(2):303-8. [PubMed: 863229]  [MGI Ref ID J:5808]

Oca2p-25H related

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Hash DC; Wolfe HG. 1979. Pink-eyed dilution alleles affect negative surface charges of mouse spermatozoa. Dev Genet 1:61-68.  [MGI Ref ID J:11957]

Hunt DM; Johnson DR. 1971. Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse. J Embryol Exp Morphol 26(1):111-21. [PubMed: 5565073]  [MGI Ref ID J:5219]

Johnson DR; Hunt DM. 1975. Endocrinological findings in sterile pink-eyed mice. J Reprod Fertil 42(1):51-8. [PubMed: 162962]  [MGI Ref ID J:5508]

Johnson DR; Hunt DM. 1972. p<25H> - pink eyed 25 Harwell Mouse News Lett 47:52.  [MGI Ref ID J:64106]

Lehman AL; Nakatsu Y; Ching A; Bronson RT; Oakey RJ; Keiper-Hrynko N ; Finger JN ; Durham-Pierre D ; Horton DB ; Newton JM ; Lyon MF ; Brilliant MH. 1998. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A 95(16):9436-41. [PubMed: 9689098]  [MGI Ref ID J:49046]

Lyon MF; King TR; Gondo Y; Gardner JM; Nakatsu Y; Eicher EM; Brilliant MH. 1992. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A 89(15):6968-72. [PubMed: 1495987]  [MGI Ref ID J:2108]

Melvold RW. 1974. The effects of mutant p-alleles on the reproductive system in mice. Genet Res 23(3):319-25. [PubMed: 4435358]  [MGI Ref ID J:5501]

Phillips RJS. 1977. Description of the phenotypes of p-alleles (other than p) held at Harwell Mouse News Lett 56:38.  [MGI Ref ID J:15082]

Phillips RJS. 1977. Description of the phenotypes of p-alleles (other than p) held at Harwell - correction Mouse News Lett 57:18.  [MGI Ref ID J:13720]

Rosemblat S; Sviderskaya EV; Easty DJ; Wilson A; Kwon BS; Bennett DC ; Orlow SJ. 1998. Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine. Exp Cell Res 239(2):344-52. [PubMed: 9521852]  [MGI Ref ID J:47086]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Sitaram A; Dennis MK; Chaudhuri R; De Jesus-Rojas W; Tenza D; Setty SR; Wood CS; Sviderskaya EV; Bennett DC; Raposo G; Bonifacino JS; Marks MS. 2012. Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell 23(16):3178-92. [PubMed: 22718909]  [MGI Ref ID J:199702]

Wolfe HG. 1977. Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice. Genetics 85(2):303-8. [PubMed: 863229]  [MGI Ref ID J:5808]

Oca2p-d related

Carter TC. 1959. New mutant, dark pink-eye Mouse News Lett 21:40.  [MGI Ref ID J:15050]

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Lyon MF; King TR; Gondo Y; Gardner JM; Nakatsu Y; Eicher EM; Brilliant MH. 1992. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A 89(15):6968-72. [PubMed: 1495987]  [MGI Ref ID J:2108]

Phillips RJS. 1977. Description of the phenotypes of p-alleles (other than p) held at Harwell Mouse News Lett 56:38.  [MGI Ref ID J:15082]

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 & HusbandryThe male sterility, female semisterility and failure of females to nurture their young that are characteristic of Oca2p-25H homozygotes necessitate maintaining this mutation by mating compound heterozygotes. Oca2p-25H/Oca2p-25H females may produce one or two litters, but the pups must be fostered to survive.

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* $3300.00
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 willfulfill 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* $4290.00
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 willfulfill 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
   None Available
 
  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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