RGD Reference Report - The rat pink-eyed dilution (p) mutation: an identical intragenic deletion in pink-eye dilute-coat strains and several Wistar-derived albino strains. - Rat Genome Database

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The rat pink-eyed dilution (p) mutation: an identical intragenic deletion in pink-eye dilute-coat strains and several Wistar-derived albino strains.

Authors: Kuramoto, T  Gohma, H  Kimura, K  Wedekind, D  Hedrich, HJ  Serikawa, T 
Citation: Kuramoto T, etal., Mamm Genome. 2005 Sep;16(9):712-9. Epub 2005 Oct 20.
RGD ID: 1579834
Pubmed: PMID:16245028   (View Abstract at PubMed)
DOI: DOI:10.1007/s00335-005-0061-8   (Journal Full-text)

We identified the rat pink-eyed dilution (p) and pink eye Mishima (p(m)) mutations. The p(m) mutation, which was isolated from a wild rat caught in Mishima Japan in 1961 and is carried in the NIG-III strain, is a splice donor site mutation in intron 5. The p mutation, which was first described in 1914 and is carried in several p/p rats including the RCS and BDV strains, is an intragenic deletion including exons 17 and 18. In addition to RCS and BDV strains, several albino strains, KHR, KMI and WNA, all descendants of albino stock of the Wistar Institute, are homozygous for the p allele. Analyses revealed that the colored p strains and the Wistar-derived albino p strains had the same marker haplotype spanning approximately 4 Mb around the P locus. This indicates that these p strains share a common ancestor and the p allele did not arise independently via recurrent mutations. The historical relationship among the p strains suggests that the p deletion had been maintained in stock heterogeneous for the C and P loci and then was inherited independently by the ancestor of the Wistar albino stock and the ancestor of the pink-eyed agouti rats in Europe.



Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NIG-III/HokRatdecreased eye pigmentation  IAGP  RGD 
Oca2Ratocular albinism  IAGP  RGD 
Objects Annotated

Genes (Rattus norvegicus)
Oca2  (OCA2 melanosomal transmembrane protein)

Strains
NIG-III/Hok  (NA)


Additional Information