Strain Detail Sheet

Strain Name:
B6.Cg-Pmelsi/Mmmh
Stock Number:
000151-MU
Citation ID:
RRID:MMRRC_000151-MU
Major Collection:
Mammalian Pigmentation

Strain Information

Gene Details

Pmelsi
Name: premelanosome protein; silver
Synonyms: gp100, gp87, Pmel 17, silver, si
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 10
Alteration at locus: Spontaneous Mutation
Pmel
Name: premelanosome protein
Synonyms: Si, Pmel17, gp100, D12S53Eh, D10H12S53E, gp87
Type: Gene
Species: Mouse
Chromosome: 10
Alteration at locus: Spontaneous Mutation
NCBI: 20431
VEGA: 10
Homologene: 5048
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Strain Description

Phenotype
Homozygotes: On the C57BL/6 background, mice exhibit more silvering on the belly than on the back and become more silvery with age. Melanin granules are reduced or absent as a result the silvering in the fur is variable with mutliple types of hairs including all white, all black, white tips and white, grey or black bands.

Heterozygotes: Heterozygote phenotype is expected to be similar to the wild-type phenotype.

Mammalian Phenotype Terms
Allelic Composition: Pmelsi/Pmelsi (Genetic Background: Not Specified )
Allelic Composition: Pmelsi/Pmelsi (Genetic Background: STOCK a Tyrp1b Pmelsi/J )
MeSH Terms
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • Codon, Terminator/genetics
  • Hair Color/genetics
  • Humans
  • Introns/genetics
  • Membrane Glycoproteins/chemistry
  • Membrane Glycoproteins/genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Molecular Weight
  • Mutation/genetics
  • Neoplasm Proteins/chemistry
  • Neoplasm Proteins/genetics
  • Proteins
  • RNA, Messenger/analysis
  • RNA, Messenger/genetics
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid
  • gp100 Melanoma Antigen
  • Alternative Splicing
  • Cell Extracts
  • Decarboxylation
  • Melanocytes/metabolism
  • Membrane Glycoproteins
  • Mutagenesis
  • Neoplasm Proteins/physiology
  • Oxidoreductases
  • Proteins/metabolism
  • Subcellular Fractions
  • Blotting, Northern
  • Carboxypeptidases/genetics
  • Carboxypeptidases/metabolism
  • Gene Expression/drug effects
  • Gene Expression/physiology
  • Melanocytes/drug effects
  • Melanocytes/physiology
  • Melanoma
  • Membrane Glycoproteins/metabolism
  • Pigments, Biological/genetics
  • Pigments, Biological/metabolism
  • Protein Biosynthesis/physiology
  • Transcription, Genetic/physiology
  • Transforming Growth Factor beta/pharmacology
  • Tumor Cells, Cultured
  • Tumor Necrosis Factor-alpha/pharmacology
  • alpha-MSH/pharmacology
Strain Development
The cDNA sequence of the silver allele (si) was reported to contain a single base [A] insertion at the 3' terminus causing a frame-shift resulting in a 12-residue peptide expansion (Kwon et al., 1995). More recently, other groups have reported that the mutant locus encodes a different cDNA termed gp87 that arises from a single transcript and translates to an 87 kDa glycoprotein (Schreurs et al., 1997; Zhai et al., 1997; Martinez-Esparza et al., 1999; Solano et al., 2000). This protein is an orthologue of GP100, the other isoform encoded by the human silver locus. It was determined that the si mutation consists of a G to A substitution in the genome at nucleotide 1808 which creates a premature stop codon and a unique AluI restriction site. The resulting mutant protein is truncated at the C-terminus and lacks 25 amino acids. This missing region contains a putative melanosomal targeting sequence and consenus binding site for the adaptor complex AP-3 (Hning et al., 1998), suggesting that protein mis-routing results from the silver mutation. The wild type mouse protein has 626 amino acids and contains 10 potential P-associated-T-linked glycosylation sites. The O-glycosylation center may significantly contribute to the function of the mouse protein by inducing specific conformational motifs that affect its structure or provide nucleation regions for melanin intermediate binding. The protein encoded by the silver locus has been proposed to extend out from the melanosomal membrane into the intramelanosomal space where it may interact with other proteins critical to normal melanogenic processes, perhaps by modulating their activity or intracellular accumulation. While it has not been determined why two distinct cDNAs (Pmel17 and gp87) were cloned from the murine silver locus, both si mutant sequences contain disruptions in the cytoplasmic region and both map to the silver locus on mouse chromosome 10. GP87, however, is the only protein thus far to be demonstrated in mouse melanocytes through antibody-directed epitope analysis of silver locus protein products." (Solano, F, et al., 2000.)

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.

Research Applications

  • Mammalian Pigmentation

Strain Origin

Donor
Lynn Lamoreux, Ph.D., Texas A&M University
Primary Reference
  • Martinez-Esparza M, Jimenez-Cervantes C, Bennett DC, Lozano JA, Solano F, Garcia-Borron JC. The mouse silver locus encodes a single transcript truncated by the silver mutation. Mamm Genome. 1999 Dec;10(12):1168-71. No abstract available. (Medline PMID: 10594241)
  • Solano F, Martinez-Esparza M, Jimenez-Cervantes C, Hill SP, Lozano JA, Garcia-Borron JC. New insights on the structure of the mouse silver locus and on the function of the silver protein. Pigment Cell Res. 2000;13 Suppl 8:118-24. (Medline PMID: 11041368)
  • Martinez-Esparza M, Jimenez-Cervantes C, Solano F, Lozano JA, Garcia-Borron JC. Regulation of the murine silver locus product (gp87) by the hypopigmenting cytokines TGF-beta1 and TNF-alpha. Pigment Cell Res. 2000 Apr;13(2):120-6. (Medline PMID: 10841034)

Colony and Husbandry Information

Health Status Report

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Order Request Information

Availability Level

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Conditions of Distribution

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*		 Units Notes
000151-MU-EMBRYO Cryo-preserved embryos $1,038.00 / $2,621.00
Non-Profit / For-Profit		 Aliquot Approximate quantity2 : 20-40 embryos / aliquot
000151-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit		 Aliquot Approximate quantity3
000151-MU-RESUS Litter recovered from cryo-archive $2,016.00 / $4,103.00
Non-Profit / For-Profit		 Litter Recovered litter4; additional fees for any special requests.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.