Strain Name:

C3Fe.C3-Ap3b1pe/J

Stock Number:

000232

Availability:

Repository-Cryopreserved

Description

Strain Information

Former Names C3HeB/FeJ-Ap3b1pe    (Changed: 19-SEP-05 )
Type Mutant Strain;
Additional information on Genetically Engineered Mutant Mice.
Specieslaboratory mouse
GenerationN40 (11-SEP-05)

Description
The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.

Development
The pearl mutation occurred spontaneously in 1948 at the eighth generation of brother-sister inbreeding of strain C3H/He at Oak Ridge National Laboratory (Sarvella PA, 1954). The strain was cryopreserved in 1991 at the N39 backcross to C3HeB/FeJ.

Related Strains

Strains carrying   Ap3b1pe allele
000102   B6.C3-Ap3b1pe/J
003215   B6Pin.C3-Ap3b1pe/J
View Strains carrying   Ap3b1pe     (2 strains)

Strains carrying other alleles of Ap3b1
003599   B10.RIII H2r H2-T18b/(71NS)Sn-Ap3b1pe-11J/J
006253   B6.Cg-Ap3b1tm1.1Sms/J
002531   DBA/1LacJ-Ap3b1pe-7J/J
002510   DBA/2J-Ap3b1pe-8J/J
View Strains carrying other alleles of Ap3b1     (4 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms
Hermansky-Pudlak Syndrome 2; HPS2 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Hermansky-Pudlak Syndrome; HPS - 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

Ap3b1pe/Ap3b1pe

        involves: C3H/He
  • lethality-prenatal/perinatal
  • neonatal lethality (MGI Ref ID J:15331)
    • smaller litter sizes at birth
  • lethality-postnatal
  • postnatal lethality (MGI Ref ID J:15331)
    • reduced litter sizes at weaning
  • life span-post-weaning/aging
  • pregnancy-related premature death (MGI Ref ID J:15331)
    • females tend to die in pregnancy and while nursing
  • pigmentation phenotype
  • abnormal coat color (MGI Ref ID J:15331)
    • about 6% of homozygotes have normal color patches
    • if more than 5% of coat is normally pigmented then germinal reversion is also seen
    • diluted coat color (MGI Ref ID J:15331)
      • greatest at the base of hairs but affecting the whole hair
      • snout, ears, feet and tail particularly lighter than controls
    • white spotting (MGI Ref ID J:15331)
      • white "mask" around eyes
      • narrow mid ventral white streak
  • abnormal melanosome morphology (MGI Ref ID J:80751)
    • immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed
    • increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking
  • reduced eye pigmentation (MGI Ref ID J:15331)
    • at birth but normal in adults
  • skin/coat/nails phenotype
  • abnormal coat color (MGI Ref ID J:15331)
    • about 6% of homozygotes have normal color patches
    • if more than 5% of coat is normally pigmented then germinal reversion is also seen
    • diluted coat color (MGI Ref ID J:15331)
      • greatest at the base of hairs but affecting the whole hair
      • snout, ears, feet and tail particularly lighter than controls
    • white spotting (MGI Ref ID J:15331)
      • white "mask" around eyes
      • narrow mid ventral white streak
  • homeostasis/metabolism phenotype
  • abnormal blood coagulation (MGI Ref ID J:7327)
    • abnormal platelet physiology (MGI Ref ID J:7327)
      • platelet numbers are normal
      • decreased numbers of dense granules/platelet
      • less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)
      • decreased platelet serotonin level (MGI Ref ID J:7327)
        • much reduced levels of serotonin in platelets and in each large dense granule
    • increased bleeding time (MGI Ref ID J:7327)
  • reproductive system phenotype
  • female infertility (MGI Ref ID J:15331)
    • about 1 in 7 females is sterile
  • renal/urinary system phenotype
  • abnormal kidney physiology (MGI Ref ID J:15331)
  • vision/eye phenotype
  • abnormal eye morphology (MGI Ref ID J:15331)
    • reduced eye pigmentation (MGI Ref ID J:15331)
      • at birth but normal in adults
  • hematopoietic system phenotype
  • abnormal platelet physiology (MGI Ref ID J:7327)
    • platelet numbers are normal
    • decreased numbers of dense granules/platelet
    • less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • much reduced levels of serotonin in platelets and in each large dense granule
  • cardiovascular system phenotype
  • abnormal cardiovascular system morphology (MGI Ref ID J:15331)

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Ap3b1pe/Ap3b1pe

        involves: C3H/He * C57BL/6J
  • homeostasis/metabolism phenotype
  • abnormal enzyme/ coenzyme level (MGI Ref ID J:6219)
    • kidney glucuronidase levels elevated 2.5X over controls
    • kidney galactosidase and mannosidase levels are also elevated
    • increased kidney synthesis of glucuronidase
    • decreased secretion of beta-galactosidase but not other lysosome enzymes
  • renal/urinary system phenotype
  • abnormal proximal convoluted tubule morphology (MGI Ref ID J:6219)
    • increased hypertrophy of proximal tubule cells after testosterone treatment as compared to controls

Ap3b1pe/Ap3b1pe

        B6.C3-Ap3b1pe/J
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:53228)
    • about 40% survive less than 2 years
  • vision/eye phenotype
  • abnormal eye movement (MGI Ref ID J:12089)
    • absence of optokinetic nystagmus
  • abnormal vision (MGI Ref ID J:12089)
    • visual sensitivity is diminished on dim backgrounds but sensitivity is normal on bright backgrounds
  • nervous system phenotype
  • abnormal forebrain morphology (MGI Ref ID J:12089)
    • abnormal lateral geniculate nucleus morphology (MGI Ref ID J:12089)
      • reduced ipsilateral optic projections
    • abnormal visual cortex morphology (MGI Ref ID J:12089)
      • reduced ipsilateral projections to the visual cortex
  • abnormal midbrain roof plate morphology (MGI Ref ID J:29747)
    • denser optic projections to the contralateral anterior and posterior olivary pretectal nuclei
    • projections to the rostral ipsilateral anterior olivary pretectal nucleus are reduced in density
    • accessory input to the contralateral dorsal terminal nucleus is substantially reduced
    • abnormal superior colliculus (MGI Ref ID J:12089)
      • reduced ipsilateral projections to the superior colliculus
  • abnormal optic tract morphology (MGI Ref ID J:29747)
    • inferior fasciculus of the accessory optic tract is significantly reduced
  • respiratory system phenotype
  • abnormal respiratory alveoli morphology (MGI Ref ID J:53228)
    • lungs show a moderately honeycombed structure
    • airspace enlargement
  • lung hemorrhage (MGI Ref ID J:53228)
    • in about 3/8 of homozygotes surviving more than 2 years
  • cardiovascular system phenotype
  • lung hemorrhage (MGI Ref ID J:53228)
    • in about 3/8 of homozygotes surviving more than 2 years
  • behavior/neurological phenotype
  • abnormal eye movement (MGI Ref ID J:12089)
    • absence of optokinetic nystagmus
  • homeostasis/metabolism phenotype
  • abnormal platelet physiology (MGI Ref ID J:7327)
    • Platelet ATP and ADP levels are much lower than in C57BL/6J controls
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • less than 3% of normal platelet serotonin levels
  • increased bleeding time (MGI Ref ID J:7327)
    • bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
  • platelet storage pool deficiency (MGI Ref ID J:7327)
  • hematopoietic system phenotype
  • abnormal platelet dense granule number (MGI Ref ID J:7327)
    • vastly reduced number of platelet dense granules
  • abnormal platelet physiology (MGI Ref ID J:7327)
    • Platelet ATP and ADP levels are much lower than in C57BL/6J controls
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • less than 3% of normal platelet serotonin levels
  • platelet storage pool deficiency (MGI Ref ID J:7327)
  • cellular phenotype
  • decreased lysosomal enzyme secretion (MGI Ref ID J:7327)
    • thrombin stimulation of platelets results in slightly more than half the normal levels of secretion of beta-glucuronidase and beta-galactosidase
View Research Applications

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

Ap3b1pe related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects (platelet storage pool deficiency)

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)

Genes & Alleles

Gene & Allele Information

Allele Symbol Ap3b1pe
Allele Name pearl
Allele Type Spontaneous
Common Name(s) pe;
Strain of OriginC3H/He
Gene Symbol and Name Ap3b1, adaptor-related protein complex 3, beta 1 subunit
Chromosome 13
Gene Common Name(s) ADTB3; ADTB3A; AP-3; AU015684; C78395; HPS; HPS2; PE; beta3A; expressed sequence AU015684; expressed sequence C78395; pe; pearl; recombination induced mutation 2; rim2;
Molecular Note The molecular mutation consists of a 793 bp tandem duplication that alters the reading frame and truncates the protein 130 amino acids from the C terminus. [MGI Ref ID J:52879] [MGI Ref ID J:65643]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Ap3b1pe related

Balkema GW Jr; Pinto LH; Drager UC; Vanable JW Jr. 1981. Characterization of abnormalities in the visual system of the mutant mouse pearl. J Neurosci 1(11):1320-9. [PubMed: 7310489]  [MGI Ref ID J:12089]

Balkema GW; Mangini NJ; Pinto LH. 1983. Discrete visual defects in pearl mutant mice. Science 219(4588):1085-7. [PubMed: 6600521]  [MGI Ref ID J:6973]

Cernadas M; Sugita M; van der Wel N; Cao X; Gumperz JE; Maltsev S; Besra GS; Behar SM; Peters PJ; Brenner MB. 2003. Lysosomal localization of murine CD1d mediated by AP-3 is necessary for NK T cell development. J Immunol 171(8):4149-55. [PubMed: 14530337]  [MGI Ref ID J:109517]

Chan WT; Sherer NM; Uchil PD; Novak EK; Swank RT; Mothes W. 2008. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE 3(7):e2713. [PubMed: 18629000]  [MGI Ref ID J:139279]

Clark EA; Shultz LD; Pollack SB. 1981. Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics 12(5-6):601-13. [PubMed: 6971254]  [MGI Ref ID J:6485]

Feng L; Rigatti BW; Novak EK; Gorin MB; Swank RT. 2000. Genomic structure of the mouse ap3b1 gene in normal and pearl mice Genomics 69(3):370-9. [PubMed: 11056055]  [MGI Ref ID J:65643]

Feng L; Seymour AB; Jiang S; To A; Peden AA; Novak EK; Zhen L ; Rusiniak ME ; Eicher EM ; Robinson MS ; Gorin MB ; Swank RT. 1999. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 8(2):323-30. [PubMed: 9931340]  [MGI Ref ID J:52879]

Grabner CP; Price SD; Lysakowski A; Cahill AL; Fox AP. 2006. Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3. Proc Natl Acad Sci U S A 103(26):10035-40. [PubMed: 16788073]  [MGI Ref ID J:111070]

Guttentag SH; Akhtar A; Tao JQ; Atochina E; Rusiniak ME; Swank RT; Bates SR. 2005. Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol 33(1):14-21. [PubMed: 15790974]  [MGI Ref ID J:110954]

Lyerla TA; Rusiniak ME; Borchers M; Jahreis G; Tan J; Ohtake P; Novak EK; Swank RT. 2003. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol 285(3):L643-53. [PubMed: 12777251]  [MGI Ref ID J:85431]

McGarry MP; Novak EK; Swank RT. 1986. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol 14(4):261-5. [PubMed: 3516713]  [MGI Ref ID J:11990]

McGarry MP; Reddington M; Novak EK; Swank RT. 1999. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med 220(3):162-8. [PubMed: 10193444]  [MGI Ref ID J:53228]

Misawa H; Fujigaya H; Nishimura T; Moriwaki Y; Okuda T; Kawashima K; Nakata K; Ruggiero AM; Blakely RD; Nakatsu F; Ohno H. 2008. Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice. Eur J Neurosci 27(12):3109-17. [PubMed: 18554297]  [MGI Ref ID J:137410]

Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML. 2002. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119(5):1156-64. [PubMed: 12445206]  [MGI Ref ID J:80751]

Novak E; Swank R; McGarry M. 1984. Correction of bleeding abnormalities in animal models of platelet storage pool deficiency by marrow transplantation Mouse News Lett 71:46.  [MGI Ref ID J:14448]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

Novak EK; Swank RT. 1979. Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics 92(1):189-204. [PubMed: 115747]  [MGI Ref ID J:6219]

Pak MW; Giolli RA; Pinto LH; Mangini NJ; Gregory KM; Vanable JW Jr. 1987. Retinopretectal and accessory optic projections of normal mice and the OKN-defective mutant mice beige, beige-J, and pearl. J Comp Neurol 258(3):435-46. [PubMed: 3584547]  [MGI Ref ID J:29747]

Park EJ; Kim JH; Seong RH; Kim CG; Park SD; Hong SH. 1999. Characterization of a novel mouse cDNA, ES18, involved in apoptotic cell death of T-cells. Nucleic Acids Res 27(6):1524-30. [PubMed: 10037816]  [MGI Ref ID J:53879]

Russell LB. 1964. Genetic and Functional Mosaicism in the Mouse. In: The Role of the Chromosomes in Development. Academic Press, New York.  [MGI Ref ID J:29504]

Russell LB; Russell WL. 1953. Steel (Sl) and Pearl (pe) Mouse News Lett 8:14.  [MGI Ref ID J:104625]

Salazar G; Craige B; Styers ML; Newell-Litwa KA; Doucette MM; Wainer BH; Falcon-Perez JM; Dell'Angelica EC; Peden AA; Werner E; Faundez V. 2006. BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell 17(9):4014-26. [PubMed: 16760431]  [MGI Ref ID J:114481]

Sarvella PA. 1954. Pearl, a new spontaneous coat and eye color mutation in the house mouse J Hered 45:19-20.  [MGI Ref ID J:15331]

Swank RT; Novak EK; McGarry MP; Zhang Y; Li W; Zhang Q; Feng L. 2000. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res 13 Suppl 8:59-67. [PubMed: 11041359]  [MGI Ref ID J:103794]

Timmerman V; Nelis E; Van Hul W; Nieuwenhuijsen BW; Chen KL; Wang S; Ben Othman K; Cullen B; Leach RJ; Hanemann CO; De Jonghe P; Raeymaekers P; van Ommen GJ; Martin JJ; Muller HW; Vance JM; Fischbeck KH; Van Broeckhoven C. 1992. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication [published erratum appears in Nat Genet 1992 Sep;2(1):84] Nat Genet 1(3):171-5. [PubMed: 1303230]  [MGI Ref ID J:1089]

Whitney JB 3d; Lamoreux ML. 1982. Transposable elements controlling genetic instabilities in mammals. J Hered 73(1):12-8. [PubMed: 6279728]  [MGI Ref ID J:6739]

Young LR; Borchers MT; Allen HL; Gibbons RS; McCormack FX. 2006. Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. J Immunol 176(7):4361-8. [PubMed: 16547274]  [MGI Ref ID J:129894]

Young LR; Pasula R; Gulleman PM; Deutsch GH; McCormack FX. 2007. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol 37(1):67-74. [PubMed: 17363777]  [MGI Ref ID J:137563]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & HusbandryHomozygous pearl neonates can be identified by the reduced pigmentation of their eyes. Adult homozygotes are recognizable by their dilute coat color; the base of the hair being affected more than the tip. Snout, ears, feet and tail also are lighter than agouti C3H mice. According to Sarvella (1954), homozygous females make poor mothers and have a tendency to die during pregnancy and lactation.

Purchasing information

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

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

Additional Supply Details

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

    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.

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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Terms of Use

Terms of Use


General Terms and Conditions


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General inquiries

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

JAX® Mice & Services Conditions of Use

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