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

Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse

Description
The reduced pigmentation (rp) mutation causes defects in organelle biogenesis. On a non-agouti background, mice homozygous for the recessive rp mutation have lighter coat color, pale ears and tail, and the eyes are dark. This coat color is similar in intensity to that caused by the cocoa or ruby eye-2 mutations, and there is no change in coloration with age. Homozygotes are viable and fertile, but have an increased bleed time, decreased splenic NK cell activity, and the melanosomes fail to properly mature (Gibb et al., 1981; Ahmed et al., 1989). There are fewer ellipsoidal type IV melanosomes, and the striated melanosomes are elongated but irregularly shaped indicating that rp disrupts the melanosomal maturation step II (Nguyen et al., 2002). These pigment granules are smaller than normal, but they are not found clumped together. Increased beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase activities are found in kidney homogenates of rp homozygotes similar to the increases found in these lysosomal glycosidase activities in a group of Hermansky-Pudlak model mice including those homozygous for Lyst^bg, Vps33a^bf, Hps1^ep, Hps4^le, Bloc1s6^pa, Ap3b1^pe, or Hps6^ru. rp reduces the incidence of splenic lipofuscinosis on a C57BL background indicating that the lysosomes of macrophages are impacted (Ahmed and Shire, 1985). As with mice homozygous for Lyst^bg, rp homozygotes are more susceptible to the anaesthetics pentobarbital, tribromoethanol, and alphaxalone. (Ahmed et al., 1989).

Development
The reduced pigmentation mutation arose spontaneously on the C57BL/Tb background and was backcrossed twice to the C57BL/10ScSn background. In 1989 C57BL-rp mice were sent from Dr. John Shire at The University of Essex to Dr. Ben Taylor at The Jackson Laboratory where the strain was maintained by sibling mating primarily homozygous females with heterozygous males. In 1994 C57BL/6J females were bred with F19 homozygous males to generate embryos for cryopreservation.

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 8; HPS8

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Bloc1s3^rp/Bloc1s3^rp

        involves: C57BL/10ScSn * C57BL/Tb

• pigmentation phenotype
• abnormal eye pigmentation
  • dark eyes   (MGI Ref ID J:6470)
• abnormal melanosome morphology
  • 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)
  • most fully pigmented melanosomes are spherical   (MGI Ref ID J:80751)
  • striated forms of melanosomes were elongated, but irregularly shaped and only approximated ellipsoidal shapes   (MGI Ref ID J:80751)
• • abnormal hair follicle melanin granule morphology
    • cortical and medullary pigment are reduced   (MGI Ref ID J:6470)
    • pigment granules in hair are smaller and not clumped   (MGI Ref ID J:6470)
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:6470)
• decreased tail pigmentation
  • light colored tails   (MGI Ref ID J:6470)
• diluted coat color
  • grey coat color   (MGI Ref ID J:6470)
• cellular phenotype
• abnormal lysosome physiology   (MGI Ref ID J:6801)
  • significantly higher activity in kidney of the lysosomal enzymes, beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexoseaminidase   (MGI Ref ID J:6470)
• immune system phenotype
• abnormal NK cell physiology
  • lower natural killer cell activity   (MGI Ref ID J:6801)
• hearing/vestibular/ear phenotype
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:6470)
• limbs/digits/tail phenotype
• decreased tail pigmentation
  • light colored tails   (MGI Ref ID J:6470)
• vision/eye phenotype
• abnormal eye pigmentation
  • dark eyes   (MGI Ref ID J:6470)
• craniofacial phenotype
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:6470)
• behavior/neurological phenotype
• enhanced behavioral response to anesthetic
  • mutants exhibit increased sleeping time and prolonged bleeding times after treatment with pentobarbital, tribromoethanol, or the steroid anesthetic alphaxalone   (MGI Ref ID J:29294)
• integument phenotype
• abnormal hair follicle melanin granule morphology
  • cortical and medullary pigment are reduced   (MGI Ref ID J:6470)
  • pigment granules in hair are smaller and not clumped   (MGI Ref ID J:6470)
• decreased ear pigmentation
  • light colored ears   (MGI Ref ID J:6470)
• decreased tail pigmentation
  • light colored tails   (MGI Ref ID J:6470)
• diluted coat color
  • grey coat color   (MGI Ref ID J:6470)

View Research Applications

Research Applications

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

Bloc1s3^rp related

Dermatology Research
Color and White Spotting Defects

Internal/Organ Research
Kidney Defects
      lysosomal enzyme abnormalities

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Bloc1s3rp
Allele Name		reduced pigmentation
Allele Type		Spontaneous
Strain of Origin		C57BL/Tb
Gene Symbol and Name		Bloc1s3, biogenesis of lysosome-related organelles complex-1, subunit 3
Chromosome		7
Gene Common Name(s)		BC043666; BLOS3; HPS8; RP; cDNA sequence BC043666; reduced pigmentation; rp;

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Ahmed F; Lundin LG; Shire JG. 1989. Lysosomal mutations increase susceptibility to anaesthetics. Experientia 45(11-12):1133-5. [PubMed: 2513223]  [MGI Ref ID J:29294]

Ahmed F; Shire JG. 1985. Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL mice. J Hered 76(4):311-2. [PubMed: 4031470]  [MGI Ref ID J:7980]

Gibb S; Hakansson EM; Lundin LG; Shire JG. 1981. Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res 37(1):95-103. [PubMed: 7203014]  [MGI Ref ID J:6470]

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]

Bloc1s3^rp related

Ahmed F; Lundin LG; Shire JG. 1989. Lysosomal mutations increase susceptibility to anaesthetics. Experientia 45(11-12):1133-5. [PubMed: 2513223]  [MGI Ref ID J:29294]

Ahmed F; Shire JG. 1985. Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL mice. J Hered 76(4):311-2. [PubMed: 4031470]  [MGI Ref ID J:7980]

Falcon-Perez JM; Starcevic M; Gautam R; Dell'Angelica EC. 2002. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 277(31):28191-9. [PubMed: 12019270]  [MGI Ref ID J:88019]

Gibb S; Hakansson EM; Lundin LG; Shire JG. 1981. Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res 37(1):95-103. [PubMed: 7203014]  [MGI Ref ID J:6470]

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]

Lundin LG. 1979. rp - reduced pigmentation Mouse News Lett 61:66.  [MGI Ref ID J:64459]

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]

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]

Starcevic M; Dell'Angelica EC. 2004. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 279(27):28393-401. [PubMed: 15102850]  [MGI Ref ID J:90887]

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

General Supply Notes

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

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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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