Strain Name:

C3Fe.C3-Ap3b1pe/J

Stock Number:

000232

Order this mouse

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 C3HeB/FeJ-Ap3b1pe    (Changed: 19-SEP-05 )
Type Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN40 (11-SEP-05)
Generation Definitions

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
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     (3 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Hermansky-Pudlak Syndrome 2; HPS2
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Storage Pool Platelet Disease
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Ap3b1pe/Ap3b1pe

        involves: C3H/He
  • mortality/aging
  • partial neonatal lethality
    • smaller litter sizes at birth   (MGI Ref ID J:15331)
  • postnatal lethality
    • reduced litter sizes at weaning   (MGI Ref ID J:15331)
  • pregnancy-related premature death
    • females tend to die during pregnancy and while nursing   (MGI Ref ID J:15331)
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:15331)
    • about 6% of homozygotes have normal color patches   (MGI Ref ID J:6739)
    • if more than 5% of coat is normally pigmented then germinal reversion is also seen   (MGI Ref ID J:6739)
    • diluted coat color
      • greatest at the base of hairs but affecting the whole hair   (MGI Ref ID J:15331)
      • snout, ears, feet and tail particularly lighter than controls   (MGI Ref ID J:15331)
      • the characteristic yellowish mask around the eyes is diluted to near-white   (MGI Ref ID J:15331)
    • white spotting
      • white "mask" around eyes   (MGI Ref ID J:15331)
      • a long, narrow mid ventral white streak is occasionally observed   (MGI Ref ID J:15331)
  • abnormal melanosome morphology
    • immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed   (MGI Ref ID J:80751)
    • increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking   (MGI Ref ID J:80751)
  • decreased eye pigmentation
    • at birth but normal in adults   (MGI Ref ID J:15331)
  • homeostasis/metabolism phenotype
  • abnormal blood coagulation   (MGI Ref ID J:7327)
    • abnormal platelet dense granule physiology
      • less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)   (MGI Ref ID J:7327)
    • increased bleeding time   (MGI Ref ID J:7327)
  • decreased platelet serotonin level
    • much reduced levels of serotonin in platelets and in each large dense granule   (MGI Ref ID J:7327)
  • reproductive system phenotype
  • female infertility
    • about 1 in 7 females is sterile   (MGI Ref ID J:15331)
  • vision/eye phenotype
  • decreased eye pigmentation
    • at birth but normal in adults   (MGI Ref ID J:15331)
  • hematopoietic system phenotype
  • abnormal platelet dense granule number
    • decreased numbers of dense granules/platelet   (MGI Ref ID J:7327)
    • platelet numbers are normal   (MGI Ref ID J:7327)
  • abnormal platelet dense granule physiology
    • less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)   (MGI Ref ID J:7327)
  • decreased platelet serotonin level
    • much reduced levels of serotonin in platelets and in each large dense granule   (MGI Ref ID J:7327)
  • behavior/neurological phenotype
  • abnormal maternal nurturing
    • females that survive pregnancy and lactation make poor mothers   (MGI Ref ID J:15331)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:15331)
    • about 6% of homozygotes have normal color patches   (MGI Ref ID J:6739)
    • if more than 5% of coat is normally pigmented then germinal reversion is also seen   (MGI Ref ID J:6739)
    • diluted coat color
      • greatest at the base of hairs but affecting the whole hair   (MGI Ref ID J:15331)
      • snout, ears, feet and tail particularly lighter than controls   (MGI Ref ID J:15331)
      • the characteristic yellowish mask around the eyes is diluted to near-white   (MGI Ref ID J:15331)
    • white spotting
      • white "mask" around eyes   (MGI Ref ID J:15331)
      • a long, narrow mid ventral white streak is occasionally observed   (MGI Ref ID J:15331)

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

Ap3b1pe/Ap3b1pe

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

Ap3b1pe/Ap3b1pe

        B6.C3-Ap3b1pe/J
  • mortality/aging
  • premature death
    • about 40% survive less than 2 years   (MGI Ref ID J:53228)
  • vision/eye phenotype
  • abnormal eye movement
    • absence of optokinetic nystagmus   (MGI Ref ID J:12089)
  • abnormal vision
    • visual sensitivity is diminished on dim backgrounds but sensitivity is normal on bright backgrounds   (MGI Ref ID J:12089)
  • nervous system phenotype
  • abnormal forebrain morphology   (MGI Ref ID J:12089)
    • abnormal lateral geniculate nucleus morphology
      • reduced ipsilateral optic projections   (MGI Ref ID J:12089)
    • abnormal visual cortex morphology
      • reduced ipsilateral projections to the visual cortex   (MGI Ref ID J:12089)
  • abnormal midbrain roof plate morphology
    • denser optic projections to the contralateral anterior and posterior olivary pretectal nuclei   (MGI Ref ID J:29747)
    • projections to the rostral ipsilateral anterior olivary pretectal nucleus are reduced in density   (MGI Ref ID J:29747)
    • accessory input to the contralateral dorsal terminal nucleus is substantially reduced   (MGI Ref ID J:29747)
    • abnormal superior colliculus morphology
      • reduced ipsilateral projections to the superior colliculus   (MGI Ref ID J:12089)
  • abnormal optic tract morphology
    • inferior fasciculus of the accessory optic tract is significantly reduced   (MGI Ref ID J:29747)
  • respiratory system phenotype
  • abnormal pulmonary alveolus morphology
    • lungs show a moderately honeycombed structure   (MGI Ref ID J:53228)
    • overexpanded pulmonary alveoli
      • moderate airspace enlargement   (MGI Ref ID J:53228)
  • lung hemorrhage
    • in about 3/8 of homozygotes surviving more than 2 years   (MGI Ref ID J:53228)
  • cardiovascular system phenotype
  • lung hemorrhage
    • in about 3/8 of homozygotes surviving more than 2 years   (MGI Ref ID J:53228)
  • behavior/neurological phenotype
  • abnormal eye movement
    • absence of optokinetic nystagmus   (MGI Ref ID J:12089)
  • homeostasis/metabolism phenotype
  • decreased platelet serotonin level
    • less than 3% of normal platelet serotonin levels   (MGI Ref ID J:7327)
  • increased bleeding time
    • bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls   (MGI Ref ID J:7327)
  • hematopoietic system phenotype
  • abnormal platelet dense granule morphology
    • transmission electron microscopy of platelets shows that the dense granules have very little contents, although no other subcellular platelet abnormalities are founds   (MGI Ref ID J:152219)
    • abnormal platelet dense granule number
      • vastly reduced number of platelet dense granules   (MGI Ref ID J:7327)
    • decreased platelet ADP level
      • platelet ADP levels are much lower than in C57BL/6J controls   (MGI Ref ID J:7327)
    • decreased platelet ATP level
      • platelet ATP levels are much lower than in C57BL/6J controls   (MGI Ref ID J:7327)
    • decreased platelet serotonin level
      • less than 3% of normal platelet serotonin levels   (MGI Ref ID J:7327)
  • cellular phenotype
  • abnormal lysosome morphology
    • in primary macrophages and melanocyte derived cell lines of pearl mutants immunohistochemistry staining the delta subunit of the AP3 complex reveals a weak, diffuse cytoplasmic staining rather than the normal punctate pattern   (MGI Ref ID J:152219)
    • accumulation of giant lysosomes in kidney/renal tubule cells
      • transmission electron microscopy shows numerous enlarged lysosomes in the kidney proximal tubule cells   (MGI Ref ID J:152219)
  • decreased lysosomal enzyme secretion
    • thrombin stimulation of platelets results in slightly more than half the normal levels of secretion of beta-glucuronidase and beta-galactosidase   (MGI Ref ID J:7327)
  • renal/urinary system phenotype
  • accumulation of giant lysosomes in kidney/renal tubule cells
    • transmission electron microscopy shows numerous enlarged lysosomes in the kidney proximal tubule cells   (MGI Ref ID J:152219)
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 provided by MGI

 
Allele Symbol Ap3b1pe
Allele Name pearl
Allele Type Spontaneous
Common Name(s) Ap3b1pearl; 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


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Ap3b1pe related

Akerfeldt MC; Laybutt DR. 2011. Inhibition of Id1 augments insulin secretion and protects against high-fat diet-induced glucose intolerance. Diabetes 60(10):2506-14. [PubMed: 21940780]  [MGI Ref ID J:189476]

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]

Blasius AL; Arnold CN; Georgel P; Rutschmann S; Xia Y; Lin P; Ross C; Li X; Smart NG; Beutler B. 2010. Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A 107(46):19973-8. [PubMed: 21045126]  [MGI Ref ID J:166600]

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]

Chen Y; Perry D; Boackle SA; Sobel ES; Molina H; Croker BP; Morel L. 2005. Several genes contribute to the production of autoreactive B and T cells in the murine lupus susceptibility locus Sle1c. J Immunol 175(2):1080-9. [PubMed: 16002709]  [MGI Ref ID J:100702]

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]

Feng W; Madajka M; Kerr BA; Mahabeleshwar GH; Whiteheart SW; Byzova TV. 2011. A novel role for platelet secretion in angiogenesis: mediating bone marrow-derived cell mobilization and homing. Blood 117(14):3893-902. [PubMed: 21224474]  [MGI Ref ID J:172614]

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]

Harris BS. 1999. The Jackson Laboratory Mouse Mutant Resource 1999 Mutation Reports MGI Direct Data Submission :.  [MGI Ref ID J:52521]

Jessen B; Bode SF; Ammann S; Chakravorty S; Davies G; Diestelhorst J; Frei-Jones M; Gahl WA; Gochuico BR; Griese M; Griffiths G; Janka G; Klein C; Kogl T; Kurnik K; Lehmberg K; Maul-Pavicic A; Mumford AD; Pace D; Parvaneh N; Rezaei N; de Saint Basile G; Schmitt-Graeff A; Schwarz K; Karasu GT; Zieger B; Zur Stadt U; Aichele P; Ehl S. 2013. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood 121(15):2943-51. [PubMed: 23403622]  [MGI Ref ID J:196461]

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]

Mantegazza AR; Guttentag SH; El-Benna J; Sasai M; Iwasaki A; Shen H; Laufer TM; Marks MS. 2012. Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells. Immunity 36(5):782-94. [PubMed: 22560444]  [MGI Ref ID J:187323]

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]

Meng R; Wang Y; Yao Y; Zhang Z; Harper DC; Heijnen HF; Sitaram A; Li W; Raposo G; Weiss MJ; Poncz M; Marks MS. 2012. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. Blood 120(2):404-14. [PubMed: 22611153]  [MGI Ref ID J:189024]

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]

Newell-Litwa K; Seong E; Burmeister M; Faundez V. 2007. Neuronal and non-neuronal functions of the AP-3 sorting machinery. J Cell Sci 120(Pt 4):531-41. [PubMed: 17287392]  [MGI Ref ID J:202736]

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]

Panagis L; Zhao X; Ge Y; Ren L; Mittag TW; Danias J. 2010. Gene expression changes in areas of focal loss of retinal ganglion cells in the retina of DBA/2J mice. Invest Ophthalmol Vis Sci 51(4):2024-34. [PubMed: 19737878]  [MGI Ref ID J:160429]

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]

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]

Sirkis DW; Edwards RH; Asensio CS. 2013. Widespread Dysregulation of Peptide Hormone Release in Mice Lacking Adaptor Protein AP-3. PLoS Genet 9(9):e1003812. [PubMed: 24086151]  [MGI Ref ID J:202452]

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]

Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W. 2013. Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism. J Invest Dermatol 133(7):1834-40. [PubMed: 23364476]  [MGI Ref ID J:198009]

Whitney JB 3rd; 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]

Zhen L; Jiang S; Feng L; Bright NA; Peden AA; Seymour AB; Novak EK; Elliott R; Gorin MB; Robinson MS; Swank RT. 1999. Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. Blood 94(1):146-55. [PubMed: 10381507]  [MGI Ref ID J:152219]

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 & 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.

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.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


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.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


(6.6)