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Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F19+N1p 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 Lystbg, Vps33abf, Hps1ep, Hps4le, Pldnpa, Ap3b1pe, or Hps6ru. 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 Lystbg, 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.
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Bloc1s3rp/Bloc1s3rp
involves: C57BL/10ScSn * C57BL/Tb
- pigmentation phenotype
- abnormal ear pigmentation (MGI Ref ID J:6470)
- light colored ears
- abnormal eye pigmentation (MGI Ref ID J:6470)
- dark eyes
- abnormal melanosome morphology (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
- most fully pigmented melanosomes are spherical
- striated forms of melanosomes were elongated, but irregularly shaped and only approximated ellipsoidal shapes
- abnormal hair follicle melanin granule (MGI Ref ID J:6470)
- cortical and medullary pigment are reduced
- pigment granules in hair are smaller and not clumped
- abnormal tail pigmentation (MGI Ref ID J:6470)
- light colored tails
- diluted coat color (MGI Ref ID J:6470)
- grey coat color
- 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
- immune system phenotype
- abnormal NK cell physiology (MGI Ref ID J:6801)
- lower natural killer cell activity
- hearing/vestibular/ear phenotype
- abnormal ear pigmentation (MGI Ref ID J:6470)
- light colored ears
- limbs/digits/tail phenotype
- abnormal tail pigmentation (MGI Ref ID J:6470)
- light colored tails
- vision/eye phenotype
- abnormal eye pigmentation (MGI Ref ID J:6470)
- dark eyes
- skin/coat/nails phenotype
- abnormal ear pigmentation (MGI Ref ID J:6470)
- light colored ears
- abnormal hair follicle melanin granule (MGI Ref ID J:6470)
- cortical and medullary pigment are reduced
- pigment granules in hair are smaller and not clumped
- abnormal tail pigmentation (MGI Ref ID J:6470)
- light colored tails
- diluted coat color (MGI Ref ID J:6470)
- grey coat color
- craniofacial phenotype
- abnormal ear pigmentation (MGI Ref ID J:6470)
- light colored ears
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Bloc1s3rp related
Dermatology Research
Color and White Spotting Defects
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
| 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; FLJ26641; FLJ26676; HPS8; RP; cDNA sequence BC043666; reduced pigmentation; rp; | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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]
Bloc1s3rp relatedAhmed 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]
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]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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 for further information. |
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| Supply Notes |
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Purchasing Information
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