Strain Name:

B6.C3-Bloc1s4cno/LlpJ

Stock Number:

007623

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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.C3-Cnocno/LlpJ    (Changed: 17-AUG-12 )
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

Description
Mice homozygous for the cappuccino mutation have a severe dilution in coat color and diminished eye pigmentation. The BLOC-1 complex is disrupted and melanosome development appears arrested at an early stage. These homozygotes have significantly increased bleed times due to defective platelet aggregation. This mutation provides a model for Hermansky-Pudlak Syndrome.

Development
The cappuccino mutation arose spontaneously in the C3H/HeJ inbred strain at The Jackson Laboratory. This mutation was backcrossed onto the C57BL/6J background for at least 10 backcross generations in the laboratory of Luanne Peters and sperm from homozygous males was cryopreserved in 2010.

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Hermansky-Pudlak Syndrome 1; HPS1
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Bloc1s4cno/Bloc1s4cno

        C3H/HeJ
  • pigmentation phenotype
  • abnormal choroid pigmentation
    • mutant melanosomes are reduced in number, smaller and less melanized than wild-type   (MGI Ref ID J:61187)
  • abnormal melanogenesis
    • homozygotes display abnormal melanosome formation both quantitatively and qualitatively   (MGI Ref ID J:61187)
  • abnormal melanosome morphology
    • mutant melanosomes appear immature and are severely reduced in number in the eye and skin, resulting in severe oculocutaneous albinism   (MGI Ref ID J:61187)
  • abnormal retinal pigmentation
    • mutant melanosomes are reduced in number, smaller and less melanized than wild-type   (MGI Ref ID J:61187)
  • diluted coat color
    • agouti mice are khaki colored; nonagouti mice resemble homozygous pallid mice   (MGI Ref ID J:61187)
    • homozygotes display severe coat-color dilution   (MGI Ref ID J:61187)
  • hypopigmentation
    • homozygotes display a severe reduction in skin and eye pigment relative to wild-type controls   (MGI Ref ID J:61187)
    • decreased eye pigmentation
      • mutant melanosomes are severely reduced in number throughout the retinal pigmented epithelium and choroid layers   (MGI Ref ID J:61187)
  • hematopoietic system phenotype
  • abnormal platelet dense granule number
    • adult homozygotes show a 6-fold decrease in the number of dense bodies (delta granules) per platelet relative to wild-type controls   (MGI Ref ID J:61187)
    • most mutant platelets contain no visible dense bodies, although a small number have one or two   (MGI Ref ID J:61187)
    • in contrast, the number and size of alpha-granules remains normal   (MGI Ref ID J:61187)
  • abnormal platelet dense granule physiology
    • mutant platelets show a marked deficiency of dense body contents   (MGI Ref ID J:61187)
  • decreased platelet ATP level
    • platelet ATP release is undetectable   (MGI Ref ID J:61187)
  • decreased platelet aggregation
    • platelet aggregation determined in whole blood by the impedance method in response to collagen (1 or 4 ug/mL) is reduced   (MGI Ref ID J:61187)
  • decreased platelet calcium level
    • loss of dense body electron density suggests a low platelet Ca2+ content   (MGI Ref ID J:61187)
  • decreased platelet serotonin level
    • mutant platelet serotonin levels are reduced to ~3% of wild-type levels   (MGI Ref ID J:61187)
  • homeostasis/metabolism phenotype
  • abnormal platelet dense granule physiology
    • mutant platelets show a marked deficiency of dense body contents   (MGI Ref ID J:61187)
  • decreased platelet aggregation
    • platelet aggregation determined in whole blood by the impedance method in response to collagen (1 or 4 ug/mL) is reduced   (MGI Ref ID J:61187)
  • decreased platelet calcium level
    • loss of dense body electron density suggests a low platelet Ca2+ content   (MGI Ref ID J:61187)
  • decreased platelet serotonin level
    • mutant platelet serotonin levels are reduced to ~3% of wild-type levels   (MGI Ref ID J:61187)
  • increased bleeding time
    • adult homozygotes exhibit significantly increased bleeding times relative to wild-type controls (15.9 +/- 2.9 min versus 1.5 +/- 0.6 min, respectively)   (MGI Ref ID J:61187)
    • however, all hematologic parameters, including WBC and RBC counts, hemoglobin, hematocrit, platelet counts and mean platelet volume, are normal   (MGI Ref ID J:61187)
  • vision/eye phenotype
  • abnormal optic choroid morphology
    • homozygotes display a marked reduction in the choroid layer relative to wild-type controls   (MGI Ref ID J:61187)
    • abnormal choroid pigmentation
      • mutant melanosomes are reduced in number, smaller and less melanized than wild-type   (MGI Ref ID J:61187)
  • abnormal retinal pigmentation
    • mutant melanosomes are reduced in number, smaller and less melanized than wild-type   (MGI Ref ID J:61187)
  • decreased eye pigmentation
    • mutant melanosomes are severely reduced in number throughout the retinal pigmented epithelium and choroid layers   (MGI Ref ID J:61187)
  • behavior/neurological phenotype
  • abnormal postural reflex
    • ~75% of homozygotes exhibit abnormal postural and balance reflexes with variable severity, suggesting otolith defects   (MGI Ref ID J:61187)
  • head tilt
    • some homozygotes display abnormal head tilting only upon handling and close observation   (MGI Ref ID J:61187)
    • others exhibit extreme leaning to one side   (MGI Ref ID J:61187)
  • impaired balance
    • some homozygotes display balance deficits only upon handling and close observation   (MGI Ref ID J:61187)
    • others are unable to stand upright   (MGI Ref ID J:61187)
  • renal/urinary system phenotype
  • abnormal kidney physiology
    • in mutant kidneys, activity levels of beta-galactosidase, beta-glucuronidase and alpha-galactosidase are increased by 2.0- to 2.5-fold relative to wild-type controls   (MGI Ref ID J:61187)
  • liver/biliary system phenotype
  • abnormal liver physiology
    • in mutant livers, activity levels of alpha-galactosidase are increased by >2-fold relative to wild-type controls   (MGI Ref ID J:61187)
  • cellular phenotype
  • abnormal vesicle-mediated transport
    • reduced levels of pallidin and muted indicate that BLOC-1 (biogenesis of lysosome-related organelles complex-1) is disrupted   (MGI Ref ID J:83960)
  • decreased lysosomal enzyme secretion
    • homozygotes display a lysosomal secretion defect resulting in enzyme accumulation in the kidney and liver, but not spleen or platelets   (MGI Ref ID J:61187)
    • however, lysosomal protein trafficking studies indicate that the cellular distribution of AP-3 proteins and internalization of lysosomal-associated membrane protein 1(LAMP1) is normal in mutant fibroblasts   (MGI Ref ID J:61187)
  • respiratory system phenotype
  • *normal* respiratory system phenotype
    • no gross pathologic abnormalities are detected in lung at 10 months of age   (MGI Ref ID J:61187)
  • integument phenotype
  • diluted coat color
    • agouti mice are khaki colored; nonagouti mice resemble homozygous pallid mice   (MGI Ref ID J:61187)
    • homozygotes display severe coat-color dilution   (MGI Ref ID J:61187)

Bloc1s4cno/Bloc1s4cno

        involves: C3H/HeJ
  • pigmentation phenotype
  • abnormal melanosome morphology
    • smaller and abnormal melanosomes   (MGI Ref ID J:80751)
    • pigmentation appears granular and irregulary deposited   (MGI Ref ID J:80751)
    • increase in the percentage of both multivesicular and type II/III melanosome forms (immature forms) and a relative lack of elliptical type IV forms   (MGI Ref ID J:80751)
    • progression in size from precursor (type II/III) to mature (type IV) melanosome is abolished, suggesting that melanosome development is arrested at an early stage   (MGI Ref ID J:80751)
View Research Applications

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

Bloc1s4cno related

Cell Biology Research
Vesicular Trafficking

Dermatology Research
Color and White Spotting Defects

Hematological Research
Clotting Defects
Platelet Defects
      Alterations in platelet aggregation
      platelet storage pool deficiency

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Bloc1s4cno
Allele Name cappuccino
Allele Type Spontaneous
Strain of OriginC3H/HeJ
Gene Symbol and Name Bloc1s4, biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Chromosome 5
Gene Common Name(s) 2610101N07Rik; BCAS4L; BLOS4; CNO; Cno; RGD1306037; RIKEN cDNA 2610101N07 gene; cappuccino;
General Note Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:80751, J:61187)
Molecular Note This allele comprises an 11 bp deletion that causes a frame shift that alters the C-terminal one third of the protein sequence. Expression and subcellular localization of the protein are not affected by this mutation. The mutation does affect the ability of the protein to form a complex with other lysosomal related proteins. [MGI Ref ID J:83960]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Bloc1s4cno related

Ciciotte SL; Gwynn B; Moriyama K; Huizing M; Gahl WA; Bonifacino JS; Peters LL. 2003. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood 101(11):4402-7. [PubMed: 12576321]  [MGI Ref ID J:83960]

Gwynn B; Ciciotte SL; Hunter SJ; Washburn LL; Smith RS; Andersen SG; Swank RT; Dell'Angelica EC; Bonifacino JS; Eicher EM; Peters LL. 2000. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. Blood 96(13):4227-35. [PubMed: 11110696]  [MGI Ref ID J:61187]

Newell-Litwa K; Chintala S; Jenkins S; Pare JF; McGaha L; Smith Y; Faundez V. 2010. Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus. J Neurosci 30(3):820-31. [PubMed: 20089890]  [MGI Ref ID J:157701]

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]

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* $2525.00
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* $3283.00
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.

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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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