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 B6.C3Fe-H51 ep /By    (Changed: 15-DEC-04 ) Type Congenic; Minor Histocompatibility Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6J Donor Strain C3HeB/FeJ Generation N20F3N1F20 Generation Definitions

Related Strains

Strains carrying   Hps1^ep allele

000525	B6.C3Fe-Hps1ep/J
000278	B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J

View Strains carrying   Hps1^ep     (2 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 1; HPS1

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

Hps1^ep/Hps1^ep

        B6.C3Fe-Hps1^ep/J

• cellular phenotype
• abnormal lysosome physiology
  • significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts   (MGI Ref ID J:6801)
• • increased lysosomal enzyme secretion
    • thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase   (MGI Ref ID J:7327)
• immune system phenotype
• abnormal NK cell physiology
  • lower natural killer cell activity   (MGI Ref ID J:6801)
• alveolitis
  • mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice   (MGI Ref ID J:110157)
• pigmentation phenotype
• abnormal iris pigmentation
  • the iris is slightly dark   (MGI Ref ID J:141035)
• abnormal melanosome morphology
  • marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms   (MGI Ref ID J:80751)
• decreased ear pigmentation
  • display a reduction in pigmentation of the ears   (MGI Ref ID J:99881)
• decreased tail pigmentation
  • display a reduction in pigmentation of the tail   (MGI Ref ID J:99881)
• hematopoietic system phenotype
• 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
  • 4.5 fold less platelet serotonin than in C57BL/6J control platelets   (MGI Ref ID J:7327)
  • platelet serotonin level is also lower than that of control when fed an atherogenic diet   (MGI Ref ID J:29748)
• homeostasis/metabolism phenotype
• decreased platelet serotonin level
  • 4.5 fold less platelet serotonin than in C57BL/6J control platelets   (MGI Ref ID J:7327)
  • platelet serotonin level is also lower than that of control when fed an atherogenic diet   (MGI Ref ID J:29748)
• increased bleeding time
  • bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls   (MGI Ref ID J:7327)
• cardiovascular system phenotype
• increased susceptibility to atherosclerosis
  • on an atherogenic diet homozygotes develop larger atherosclerotic lesions in the aorta than C57BL/6J controls   (MGI Ref ID J:29748)
• vision/eye phenotype
• abnormal iris pigmentation
  • the iris is slightly dark   (MGI Ref ID J:141035)
• craniofacial phenotype
• decreased ear pigmentation
  • display a reduction in pigmentation of the ears   (MGI Ref ID J:99881)
• hearing/vestibular/ear phenotype
• decreased ear pigmentation
  • display a reduction in pigmentation of the ears   (MGI Ref ID J:99881)
• limbs/digits/tail phenotype
• decreased tail pigmentation
  • display a reduction in pigmentation of the tail   (MGI Ref ID J:99881)
• integument phenotype
• decreased ear pigmentation
  • display a reduction in pigmentation of the ears   (MGI Ref ID J:99881)
• decreased tail pigmentation
  • display a reduction in pigmentation of the tail   (MGI Ref ID J:99881)
• respiratory system phenotype
• abnormal type II pneumocyte morphology
  • progressive cytoplasmic foamy changes are observed in type II pneumocytes from P0 to 24 month of age, increasing in terms of both the affected cell number and degree of severity as mice age   (MGI Ref ID J:110157)
  • marked swelling and degenerative changes of type II pneumocytes (referred to as "giant lamellar body degeneration" or GLBD) in aged mice   (MGI Ref ID J:110157)
• • enlarged alveolar lamellar bodies
    • most lamellar bodies are increased in size at P0   (MGI Ref ID J:110157)
    • numerous giant-sized lamellar bodies are often fused with each other in aged mice   (MGI Ref ID J:110157)
• alveolitis
  • mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice   (MGI Ref ID J:110157)
• overexpanded pulmonary alveoli
  • enlarged air spaces in aged mice   (MGI Ref ID J:110157)

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

Hps1^ep/Hps1^ep

        either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)

• vision/eye phenotype
• decreased eye pigmentation
  • reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth   (MGI Ref ID J:5032)
  • eyes darken with age   (MGI Ref ID J:5032)
• pigmentation phenotype
• abnormal melanosome morphology
  • smaller pigment granules reported on this mixed genetic background   (MGI Ref ID J:5032)
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:5032)
• decreased eye pigmentation
  • reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth   (MGI Ref ID J:5032)
  • eyes darken with age   (MGI Ref ID J:5032)
• decreased tail pigmentation
  • light colored tail   (MGI Ref ID J:5032)
• diluted coat color
  • paler coat color as juveniles but becoming darker in adults   (MGI Ref ID J:5032)
• craniofacial phenotype
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:5032)
• hearing/vestibular/ear phenotype
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:5032)
• limbs/digits/tail phenotype
• decreased tail pigmentation
  • light colored tail   (MGI Ref ID J:5032)
• integument phenotype
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:5032)
• decreased tail pigmentation
  • light colored tail   (MGI Ref ID J:5032)
• diluted coat color
  • paler coat color as juveniles but becoming darker in adults   (MGI Ref ID J:5032)

Hps1^ep/Hps1^ep

        involves: C3HeB/FeJ * C57BL/6J

• vision/eye phenotype
• abnormal choroid pigmentation
  • abnormally large melanosomes in choroidal melanocytes   (MGI Ref ID J:42484)
• abnormal ciliary body pigmentation
  • reduced   (MGI Ref ID J:6064)
• abnormal retina morphology
  • reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve   (MGI Ref ID J:6064)
• respiratory system phenotype
• enlarged alveolar lamellar bodies
  • type II epithelial cells with enlarged lamellar bodies   (MGI Ref ID J:85431)
• hematopoietic system phenotype
• abnormal platelet dense granule number
  • very few dense bodies in platelets   (MGI Ref ID J:42484)
• abnormal platelet physiology
  • abnormal platelet aggregation, lower rate   (MGI Ref ID J:42484)
  • decreased ATP release   (MGI Ref ID J:42484)
  • reduced secretion of stored serotonin after thrombin stimulation   (MGI Ref ID J:7327)
  • increased secretion of lysosomal enzymes   (MGI Ref ID J:7327)
• decreased platelet ADP level
  • ADP levels reduced 2.6-6X   (MGI Ref ID J:7327)
• decreased platelet ATP level
  • ATP levels reduced 1.4-2X   (MGI Ref ID J:7327)
• decreased platelet serotonin level
  • 4.5 fold reduction in platelet serotonin   (MGI Ref ID J:7327)
• homeostasis/metabolism phenotype
• abnormal circulating enzyme level
  • serum levels of beta glucuronidase and beta galactosidase elevated   (MGI Ref ID J:6219)
• abnormal platelet physiology
  • abnormal platelet aggregation, lower rate   (MGI Ref ID J:42484)
  • decreased ATP release   (MGI Ref ID J:42484)
  • reduced secretion of stored serotonin after thrombin stimulation   (MGI Ref ID J:7327)
  • increased secretion of lysosomal enzymes   (MGI Ref ID J:7327)
• abnormal urine homeostasis
  • secretion of lysosomal enzymes in urine is decreased   (MGI Ref ID J:6219)
• decreased platelet serotonin level
  • 4.5 fold reduction in platelet serotonin   (MGI Ref ID J:7327)
• increased bleeding time   (MGI Ref ID J:7327)
• renal/urinary system phenotype
• abnormal kidney physiology
  • beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment   (MGI Ref ID J:6219)
• abnormal urine homeostasis
  • secretion of lysosomal enzymes in urine is decreased   (MGI Ref ID J:6219)
• enlarged kidney
  • hypertrophy as a result of testosterone treatment   (MGI Ref ID J:6219)
• immune system phenotype
• abnormal macrophage physiology
  • several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride   (MGI Ref ID J:7869)
  • proenzymes are secreted however   (MGI Ref ID J:7869)
• pigmentation phenotype
• abnormal choroid pigmentation
  • abnormally large melanosomes in choroidal melanocytes   (MGI Ref ID J:42484)
• abnormal ciliary body pigmentation
  • reduced   (MGI Ref ID J:6064)
• abnormal melanosome morphology
  • melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background   (MGI Ref ID J:42484)

View Research Applications

Research Applications

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

Hps1^ep 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		Hps1ep
Allele Name		pale-ear
Allele Type		Spontaneous
Common Name(s)		ep;
Strain of Origin		C3HeB/FeJ
Gene Symbol and Name		Hps1, Hermansky-Pudlak syndrome 1 homolog (human)
Chromosome		19
Gene Common Name(s)		6030422N11Rik; BB405864; HPS; RIKEN cDNA 6030422N11 gene; ep; expressed sequence BB405864; pale ear;
General Note		Genbank ID for mutant allele: AF003867
Molecular Note		The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild-type and homozygous mutant animals. [MGI Ref ID J:42484]
Gene Symbol and Name		H51, histocompatibility 51
Chromosome		19
Gene Common Name(s)		H(ep); histocompatibility(ep);

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Hps1^ep related

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Bossi G; Booth S; Clark R; Davis EG; Liesner R; Richards K; Starcevic M; Stinchcombe J; Trambas C; Dell'Angelica EC; Griffiths GM. 2005. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic 6(3):243-51. [PubMed: 15702992]  [MGI Ref ID J:105404]

Brown JA; Novak EK; Swank RT. 1985. Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways. J Cell Biol 100(6):1894-904. [PubMed: 3922995]  [MGI Ref ID J:7869]

Chiang PW; Oiso N; Gautam R; Suzuki T; Swank RT; Spritz RA. 2003. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 278(22):20332-7. [PubMed: 12663659]  [MGI Ref ID J:113973]

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 GH; Bailin T; Oh J; Spritz RA. 1997. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 6(5):793-7. [PubMed: 9158155]  [MGI Ref ID J:40195]

Feng L; Novak EK; Hartnell LM; Bonifacino JS; Collinson LM; Swank RT. 2002. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 99(5):1651-8. [PubMed: 11861280]  [MGI Ref ID J:109721]

Gardner JM; Wildenberg SC; Keiper NM; Novak EK; Rusiniak ME; Swank RT ; Puri N ; Finger JN ; Hagiwara N ; Lehman AL ; Gales TL ; Bayer ME ; King RA ; Brilliant MH. 1997. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A 94(17):9238-43. [PubMed: 9256466]  [MGI Ref ID J:42484]

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]

LaVail JH; Nixon RA; Sidman RL. 1978. Genetic control of retinal ganglion cell projections. J Comp Neurol 182(3):399-421. [PubMed: 102659]  [MGI Ref ID J:6064]

Lane PW; Green EL. 1967. Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered 58(1):17-20. [PubMed: 6031677]  [MGI Ref ID J:5032]

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]

Meisler MH; Wanner L; Strahler J. 1984. Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. J Hered 75(2):103-6. [PubMed: 6232310]  [MGI Ref ID J:7416]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Murray HW; Hariprashad J; McDermott DF; Stoeckle MY. 1996. Multiple host defense defects in failure of C57BL/6 ep/ep (pale ear) mice to resolve visceral Leishmania donovani infection. Infect Immun 64(1):161-6. [PubMed: 8557335]  [MGI Ref ID J:30323]

Nazarian R; Falcon-Perez JM; Dell'Angelica EC. 2003. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A 100(15):8770-5. [PubMed: 12847290]  [MGI Ref ID J:99881]

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]

Nguyen T; Wei ML. 2007. Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. J Invest Dermatol 127(2):421-8. [PubMed: 17068483]  [MGI Ref ID J:117715]

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; Hui SW; Swank RT. 1981. The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 57(1):38-43. [PubMed: 7448413]  [MGI Ref ID J:6448]

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]

Orn A; Hakansson EM; Gidlund M; Ramstedt U; Axberg I; Wigzell H; Lundin LG. 1982. Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand J Immunol 15(3):305-10. [PubMed: 7089489]  [MGI Ref ID J:6801]

Paigen B; Holmes PA; Novak EK; Swank RT. 1990. Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. Arteriosclerosis 10(4):648-52. [PubMed: 2369371]  [MGI Ref ID J:29748]

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]

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]

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]

Tang X; Yamanaka S; Miyagi Y; Nagashima Y; Nakatani Y. 2005. Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. Pathol Int 55(3):137-43. [PubMed: 15743322]  [MGI Ref ID J:110157]

Xie T; Nguyen T; Hupe M; Wei ML. 2009. Multidrug resistance decreases with mutations of melanosomal regulatory genes. Cancer Res 69(3):992-9. [PubMed: 19155314]  [MGI Ref ID J:144973]

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]

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

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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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