Description

Strain Information

Type Congenic; Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain C57BL/6J Donor Strain C3H/HeJ Generation N25p

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Ap3b1^pe allele

003215	B6Pin.C3-Ap3b1pe/J
000232	C3Fe.C3-Ap3b1pe/J

View Strains carrying   Ap3b1^pe     (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

Ap3b1^pe/Ap3b1^pe

        B6.C3-Ap3b1^pe/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

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

Ap3b1^pe/Ap3b1^pe

        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)

Ap3b1^pe/Ap3b1^pe

        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

View Research Applications

Research Applications

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

Ap3b1^pe 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 Origin		C3H/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

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]

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]

Ap3b1^pe 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

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-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. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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.

---

Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

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

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials 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 The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.