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Spontaneous Allele Detail
Symbol: Oca2p
Name: oculocutaneous albinism II; pink-eyed dilution
MGI ID: MGI:1856114
Synonyms: p, R262X
Gene: Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM
Alliance: Oca2p page
Strain of Origin:  Asiatic fancy mice
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsA nonsense substitution was identified to account for the phenotype. It is a C-to-T substitution in exon 7 in the codon for the 262nd amino acid of the OCA2 protein (p.R262*). (J:259613)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 4 anatomical structures
Tumor Data
List all tumor models in MMHCdb carrying Oca2p
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 11 strains available      Cell Lines: 0 lines available
Carrying any Oca2 Mutation:  58 strains or lines available

Oca2p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).

Original:  J:211024 Durham FM, Further experiments on the inheritance of coat colour in mice. J Genet. 1911;1(3):159-178
All:  32 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
MGI 6.22
The Jackson Laboratory