Strain Name:

B6.Cg-Hps6ru/J

Stock Number:

000103

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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 B6.Cg-ru    (Changed: 15-DEC-04 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain Mixed stock
GenerationpN45p
Generation Definitions

Control Information

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

Related Strains

Strains carrying   Hps6ru allele
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000259   JE/LeJ
View Strains carrying   Hps6ru     (2 strains)

Strains carrying other alleles of Hps6
002424   B6 x C3H/HeJ-Hps6ru-6J/J
View Strains carrying other alleles of Hps6     (1 strain)

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 6; HPS6
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

a/a Hps6ru/Hps6ru

        B6.Cg-Hps6ru
  • hematopoietic system phenotype
  • abnormal platelet dense granule number
    • fewer platelet dense granules than normal   (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 7% of normal levels of platelet serotonin   (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
    • less than 7% of normal levels of platelet serotonin   (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 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls   (MGI Ref ID J:7327)
  • cardiovascular system phenotype
  • decreased susceptibility to atherosclerosis
    • on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls   (MGI Ref ID J:29748)
    • 60% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherosclerotic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherogenic diet   (MGI Ref ID J:29748)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:6064)
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:6064)
  • nervous system phenotype
  • abnormal lateral geniculate nucleus morphology
    • the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells   (MGI Ref ID J:6064)
  • abnormal retinal ganglion cell morphology
    • there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus   (MGI Ref ID J:6064)
  • vision/eye phenotype
  • abnormal retinal ganglion cell morphology
    • there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus   (MGI Ref ID J:6064)
  • renal/urinary system phenotype
  • abnormal kidney physiology
    • concentration of lysosomal enzymes is elevated   (MGI Ref ID J:6422)
    • decreased rate of secretion of lysosomal enzyme into urine   (MGI Ref ID J:6422)

a/a Hps6ru/Hps6ru

        involves: C57BL/6J
  • pigmentation phenotype
  • abnormal eye pigmentation   (MGI Ref ID J:5346)
  • abnormal melanogenesis
    • premelanosome formation and the subsequent deposition of melanin in the choroid is delayed until after birth   (MGI Ref ID J:5346)
    • decrease in the melanization of pigment granules   (MGI Ref ID J:5346)
  • abnormal melanosome morphology
    • reorganization of fibrillar melanosomes into particulate melanin granules, such that only 5% of melanosomes in the choroid and 50% in the retina are fibrillar in nature, the rest are particulate   (MGI Ref ID J:5346)
  • vision/eye phenotype
  • abnormal eye pigmentation   (MGI Ref ID J:5346)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

a/a Hps6ru/Hps6ru

        Background Not Specified
  • pigmentation phenotype
  • abnormal eye pigmentation
    • at birth the iris pigment ring is lacking and adults have ruby colored eyes   (MGI Ref ID J:13122)
    • electron microscopy shows reduced numbers of melanosomes in the retinal pigment epithelium, those that are found have abnormal morphology including multilamellar or granular inclusions, and choroidal melanosomes are also often misshapen and less dense than normal and tend to be clumped within multimelanosomal bodies   (MGI Ref ID J:81444)
    • abnormal choroid pigmentation   (MGI Ref ID J:81444)
    • abnormal eye pigment epithelium morphology   (MGI Ref ID J:81444)
    • abnormal iris pigmentation   (MGI Ref ID J:13122)
    • decreased eye pigmentation
      • eyes are unpigmented at birth but later, when opened, are a dark ruby color   (MGI Ref ID J:13122)
  • diluted coat color
    • the black pigment in the coat is reduced on this background and is described as sepia, reddish-brown or slate-black   (MGI Ref ID J:13122)
    • yellow coat pigment in hair behind the ears, surrounding the mammae, and in the perineum is slightly diluted   (MGI Ref ID J:13122)
  • hypopigmentation
    • the number of melanocytes in the retina, ear skin, Harderian gland, are greatly reduced   (MGI Ref ID J:12970)
    • decreased eye pigmentation
      • eyes are unpigmented at birth but later, when opened, are a dark ruby color   (MGI Ref ID J:13122)
  • vision/eye phenotype
  • abnormal eye pigmentation
    • at birth the iris pigment ring is lacking and adults have ruby colored eyes   (MGI Ref ID J:13122)
    • electron microscopy shows reduced numbers of melanosomes in the retinal pigment epithelium, those that are found have abnormal morphology including multilamellar or granular inclusions, and choroidal melanosomes are also often misshapen and less dense than normal and tend to be clumped within multimelanosomal bodies   (MGI Ref ID J:81444)
    • abnormal choroid pigmentation   (MGI Ref ID J:81444)
    • abnormal eye pigment epithelium morphology   (MGI Ref ID J:81444)
    • abnormal iris pigmentation   (MGI Ref ID J:13122)
    • decreased eye pigmentation
      • eyes are unpigmented at birth but later, when opened, are a dark ruby color   (MGI Ref ID J:13122)
  • integument phenotype
  • diluted coat color
    • the black pigment in the coat is reduced on this background and is described as sepia, reddish-brown or slate-black   (MGI Ref ID J:13122)
    • yellow coat pigment in hair behind the ears, surrounding the mammae, and in the perineum is slightly diluted   (MGI Ref ID J:13122)
View Research Applications

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

Hps6ru 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 Hps6ru
Allele Name ruby-eye
Allele Type Spontaneous
Common Name(s) ru;
Strain of OriginDanforth's Stock a Pmel Ednrb
Gene Symbol and Name Hps6, Hermansky-Pudlak syndrome 6
Chromosome 19
Gene Common Name(s) 5330434M19Rik; BLOC-2; Hsp6; RIKEN cDNA 5330434M19 gene; ru; ruby eye; ruby-eye;
Molecular Note Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. [MGI Ref ID J:81444]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Hps6ru related

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]

Center EM; Hunter RL; Dodge AH. 1967. Effects of the luxoid gene (lu) on liver esterase isozymes of the mouse. Genetics 55(2):349-58. [PubMed: 6067640]  [MGI Ref ID J:109970]

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]

Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. [PubMed: 16578176]  [MGI Ref ID J:13122]

Graham GJ; Ren Q; Dilks JR; Blair P; Whiteheart SW; Flaumenhaft R. 2009. Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo. Blood 114(5):1083-90. [PubMed: 19395672]  [MGI Ref ID J:151204]

Gwynn B; Martina JA; Bonifacino JS; Sviderskaya EV; Lamoreux ML; Bennett DC; Moriyama K; Huizing M; Helip-Wooley A; Gahl WA; Webb LS; Lambert AJ; Peters LL. 2004. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood 104(10):3181-9. [PubMed: 15265785]  [MGI Ref ID J:94897]

Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048]  [MGI Ref ID J:5346]

Huang ZM; Chinen M; Chang PJ; Xie T; Zhong L; Demetriou S; Patel MP; Scherzer R; Sviderskaya EV; Bennett DC; Millhauser GL; Oh DH; Cleaver JE; Wei ML. 2012. Targeting protein-trafficking pathways alters melanoma treatment sensitivity. Proc Natl Acad Sci U S A 109(2):553-8. [PubMed: 22203954]  [MGI Ref ID J:179983]

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]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

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]

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]

Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512]  [MGI Ref ID J:5001]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

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 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; Wieland F; Jahreis GP; Swank RT. 1980. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet 18(5-6):549-61. [PubMed: 6776948]  [MGI Ref ID J:6422]

Oberhauser AF; Fernandez JM. 1996. A fusion pore phenotype in mast cells of the ruby-eye mouse. Proc Natl Acad Sci U S A 93(25):14349-54. [PubMed: 8962054]  [MGI Ref ID J:37255]

PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454]  [MGI Ref ID J:25388]

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]

Rachel RA; Nagashima K; O'Sullivan TN; Frost LS; Stefano FP; Marigo V; Boesze-Battaglia K. 2012. Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One 7(9):e42446. [PubMed: 22984402]  [MGI Ref ID J:191882]

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]

So M; Imai Y. 1926. On the inheritance of ruby eye in mice Jpn J Genet 4:1-9.  [MGI Ref ID J:14915]

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]

Xie Y; Tan EJ; Wee S; Manser E; Lim L; Koh CG. 2008. Functional interactions between phosphatase POPX2 and mDia modulate RhoA pathways. J Cell Sci 121(Pt 4):514-21. [PubMed: 18230650]  [MGI Ref ID J:138279]

Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288]  [MGI Ref ID J:81444]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

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 will fulfill 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 will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Untyped from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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