Overview

Also Known As:reduced pigmentation

These mice carry a spontaneous mutation at the Bloc1s3 locus characterized by reduced pigmentation resulting in a lighter color of coat, ears, and tail.

Genetic overview

Genetic Background	Generation

Bloc1s3^rp

Allele Type	Gene Symbol	Gene Name
Spontaneous	Bloc1s3	biogenesis of lysosomal organelles complex-1, subunit 3

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Research Applications

Dermatology Research
Internal/Organ Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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.

Genetics

Bloc1s3^rp

Allele Symbol: Bloc1s3^rp

Allele Name	reduced pigmentation
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Bloc1s3, biogenesis of lysosomal organelles complex-1, subunit 3
Gene Synonym(s)
Strain of Origin	C57BL/Tb
Chromosome	7

Disease/Phenotype

Disease Terms

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

Research Areas By Phenotype

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

Genotype: Bloc1s3^rp related

Dermatology Research
- Color and White Spotting Defects
Internal/Organ Research
- Kidney Defects
  - lysosomal enzyme abnormalities

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Bloc1s3^rp/Bloc1s3^rp
involves: C57BL/10ScSn * C57BL/Tb

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

limbs/digits/tail phenotype

decreased tail pigmentation
- light colored tails

pigmentation phenotype

abnormal eye pigmentation
- dark eyes

abnormal hair shaft melanin granule morphology
- cortical and medullary pigment are reduced
- pigment granules in hair are smaller and not clumped

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
- most fully pigmented melanosomes are spherical
- striated forms of melanosomes were elongated, but irregularly shaped and only approximated ellipsoidal shapes

decreased ear pigmentation
- light colored ears

decreased tail pigmentation
- light colored tails

diluted coat color
- grey coat color

cellular phenotype

abnormal lysosome physiology
- significantly higher activity in kidney of the lysosomal enzymes, beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexoseaminidase

vision/eye phenotype

abnormal eye pigmentation
- dark eyes

craniofacial phenotype

decreased ear pigmentation
- light colored ears

growth/size/body region phenotype

decreased ear pigmentation
- light colored ears

hearing/vestibular/ear phenotype

decreased ear pigmentation
- light colored ears

hematopoietic system phenotype

abnormal NK cell physiology
- lower natural killer cell activity

immune system phenotype

abnormal NK cell physiology
- lower natural killer cell activity

integument phenotype

abnormal hair shaft melanin granule morphology
- cortical and medullary pigment are reduced
- pigment granules in hair are smaller and not clumped

decreased ear pigmentation
- light colored ears

decreased tail pigmentation
- light colored tails

diluted coat color
- grey coat color

References

Additional References

Ahmed F; Lundin LG; Shire JG. 1989. Lysosomal mutations increase susceptibility to anaesthetics. Experientia 45(11-12):1133-5PubMed: 2513223 MGI: J:29294
Ahmed F; Shire JG. 1985. Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL mice. J Hered 76(4):311-2PubMed: 4031470 MGI: 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):95-103PubMed: 7203014 MGI: 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):1156-64PubMed: 12445206 MGI: J:80751

Additional - Bloc1s3^rp related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the reduced pigmentation mouse strain in a publication, please cite the originating article(s) and include JAX stock #001942 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous for Bloc1s3<rp>

Related Products and Services

Frozen Mouse Embryo	C57BL-Bloc1s3<rp>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	C57BL-Bloc1s3<rp>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	C57BL-Bloc1s3<rp>/J Frozen Embryos	$3373.50
Frozen Mouse Embryo	C57BL-Bloc1s3<rp>/J Frozen Embryos	$3373.50

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:reduced pigmentation

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Bloc1s3rp

Allele Symbol: Bloc1s3rp

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Bloc1s3rp related

Mammalian Phenotype Terms by Genotype

Genotype: Bloc1s3rp/Bloc1s3rpinvolves: C57BL/10ScSn * C57BL/Tb

behavior/neurological phenotype

limbs/digits/tail phenotype

pigmentation phenotype

cellular phenotype

vision/eye phenotype

craniofacial phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

hematopoietic system phenotype

immune system phenotype

integument phenotype

References

Additional References

Additional - Bloc1s3rp related

Genotyping Protocols

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Bloc1s3^rp

Allele Symbol: Bloc1s3^rp

Genotype: Bloc1s3^rp related

Genotype: Bloc1s3^rp/Bloc1s3^rp
involves: C57BL/10ScSn * C57BL/Tb

Additional - Bloc1s3^rp related