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Pmelsi
Spontaneous Allele Detail
Nomenclature
Symbol: Pmelsi
Name: premelanosome protein; silver
MGI ID: MGI:1857040
Synonyms: gp100, gp87, Pmel 17, si, silver
Gene: Pmel  Location: Chr10:128704195-128720238 bp, + strand  Genetic Position: Chr10, 77.13 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous
Mutation:    Nucleotide substitutions
 
Mutation detailsSequencing of partial gp87 cDNA from homozygous mutant melanocytes showed this mutation comprises a G to A substitution at base 1808, resulting in a premature stop codon and truncation of the protein in the C-terminal cystolic domain. (J:22779, J:58687)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Pmel Mutation:  43 strains or lines available
Notes
This mutation arose in an unspecified English fancy stock.
References
Original:  J:13051 Dunn LC, et al., The silver mouse, a recessive color variation. J Hered. 1930;21:495-498
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory