Strain Name:

B6;B10-Hps3coa/J

Stock Number:

001025

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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 C57BL/6J-Hps3coa    (Changed: 15-DEC-04 )
Type Congenic; Mutant Strain; Spontaneous Mutation;
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 C57BL/10J
GenerationN1F14-15N1p
Generation Definitions

Development
The cocoa mutation arose spontaneously on the C57BL/10J background at The Jackson Laboratory in 1978 when that inbred was at generation F136. This mutation was maintained through sibling inbreeding and in 1985 homozygous males at generation F136+6 were bred to C57BL/6J females to generate embryos for cryopreservation.

Control Information

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

Related Strains

Strains carrying other alleles of Hps3
002472   B10.A/SgSnJ-Hps3coa-5J/J
003161   C3H/HeJ-Hps3coa-6J/J
007711   C57BL/6J-Hps3coa-8J/GrsrJ
View Strains carrying other alleles of Hps3     (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 3; HPS3
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

Hps3coa/Hps3coa

        B6;B10-Hps3coa/J
  • pigmentation phenotype
  • abnormal iris pigmentation
    • iris pigmentation is near uniform hypopigmentation   (MGI Ref ID J:141035)
  • vision/eye phenotype
  • abnormal iris pigmentation
    • iris pigmentation is near uniform hypopigmentation   (MGI Ref ID J:141035)

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

Hps3coa/Hps3coa

        involves: C57BL/10J
  • vision/eye phenotype
  • abnormal choroid pigmentation
    • electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies   (MGI Ref ID J:72606)
  • abnormal retinal pigmentation
    • electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium   (MGI Ref ID J:72606)
  • absent eye pigmentation
    • lack eye pigment   (MGI Ref ID J:9300)
  • pigmentation phenotype
  • abnormal choroid pigmentation
    • electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies   (MGI Ref ID J:72606)
  • abnormal melanosome morphology
    • shift toward more immature forms of melanosomes   (MGI Ref ID J:80751)
    • few ellipsoid melanosomes   (MGI Ref ID J:80751)
    • striated melanosomes predominantly round   (MGI Ref ID J:80751)
    • spherical multivesicular bodies also present   (MGI Ref ID J:80751)
  • abnormal retinal pigmentation
    • electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium   (MGI Ref ID J:72606)
  • absent eye pigmentation
    • lack eye pigment   (MGI Ref ID J:9300)
  • diluted coat color
    • paler coat color in both juveniles and adults   (MGI Ref ID J:9300)
    • ear pinna lack pigment at 3-4 days of age   (MGI Ref ID J:9300)
    • extremities light in color   (MGI Ref ID J:9300)
  • hematopoietic system phenotype
  • abnormal platelet morphology
    • few dense bodies in platelets as examined by electron microscopy   (MGI Ref ID J:9300)
    • granules present but abnormal as determined by mepacrine uptake   (MGI Ref ID J:9300)
    • abnormal platelet dense granule number
      • few dense bodies in platelets as examined by electron microscopy   (MGI Ref ID J:9300)
    • decreased platelet serotonin level
      • 8 fold reduction in platelet serotonin   (MGI Ref ID J:9300)
  • abnormal platelet physiology
    • decreased ATP release as tested using collagen as an agonist   (MGI Ref ID J:9300)
    • lysosomal enzymes normal   (MGI Ref ID J:9300)
    • decreased platelet aggregation   (MGI Ref ID J:9300)
  • homeostasis/metabolism phenotype
  • abnormal platelet physiology
    • decreased ATP release as tested using collagen as an agonist   (MGI Ref ID J:9300)
    • lysosomal enzymes normal   (MGI Ref ID J:9300)
    • decreased platelet aggregation   (MGI Ref ID J:9300)
  • decreased platelet serotonin level
    • 8 fold reduction in platelet serotonin   (MGI Ref ID J:9300)
  • increased bleeding time
    • more than 15 minutes as opposed to 1 or 2 minutes   (MGI Ref ID J:9300)
  • integument phenotype
  • diluted coat color
    • paler coat color in both juveniles and adults   (MGI Ref ID J:9300)
    • ear pinna lack pigment at 3-4 days of age   (MGI Ref ID J:9300)
    • extremities light in color   (MGI Ref ID J:9300)
View Research Applications

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

Hps3coa related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects
      platelet storage pool deficiency

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Hps3coa
Allele Name cocoa
Allele Type Spontaneous
Common Name(s) co; coa;
Strain of OriginC57BL/10J
Gene Symbol and Name Hps3, Hermansky-Pudlak syndrome 3 homolog (human)
Chromosome 3
Gene Common Name(s) SUTAL; coa; cocoa;
Molecular Note The underlying mutation responsible for the phenotype in the cocoa mouse was identified as an A to T substitution in the 3' splice site of the gene. A cryptic splice site is utilized within exon 15, which results in a frameshift. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals. [MGI Ref ID J:72606]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Hps3coa 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]

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]

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]

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; Sweet HO; Prochazka M; Parentis M; Soble R; Reddington M; Cairo A; Swank RT. 1988. Cocoa: a new mouse model for platelet storage pool deficiency. Br J Haematol 69(3):371-8. [PubMed: 3408670]  [MGI Ref ID J:9300]

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]

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]

Suzuki T; Li W; Zhang Q; Novak EK; Sviderskaya EV; Wilson A; Bennett DC; Roe BA; Swank RT; Spritz RA. 2001. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human hermansky-pudlak syndrome-3 gene. Genomics 78(1/2):30-7. [PubMed: 11707070]  [MGI Ref ID J:72606]

Sweet HO; Prochazka M. 1985. Cocoa (coa) Mouse News Lett 73:18.  [MGI Ref ID J:14018]

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 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.

Control Information

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

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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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