Allele Symbol: Pmelsi
Alteration at locus: Spontaneous Mutation
Gene Symbol: Pmel
Name: premelanosome protein
Alteration at locus: Spontaneous Mutation
ES Cell Line: Not Applicable
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.
Strain of Origin: STOCK
Strain genetic background: B6;Cg
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.)
Donor: Lynn Lamoreux, Ph.D., Texas A&M University
Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.
Fee/unit (US $)
|Litter||Recovered litter1; additional fees for any special requests.|
|Aliquot||Approximate quantity3: 20-40 embryos / aliquot|
1 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.
2 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.
3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.
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.