A normal-size Oca2p mRNA is present in the skin of mice homozygous for the Oca2p mutation, but in greatly reduced amounts; thus, this appears to be a hypomorphic rather than a null allele. B6By.Cg-Oca2p/Oca2p/J mice are grey with pink eyes. The Oca2p mutation affects the amount of eumelanin (brown/black pigment) and the size and morphology of eumelanosomes (black pigment granules), but has little or no effect on pheomelanin (red/yellow pigment).
Pink-eyed dilution (Oca2p) is an old mutation of the mouse fancy. It was introduced onto the C57BL/6By background by repeated backcrossing to the host strain.
|Allele Name||pink-eyed dilution|
|Allele Synonym(s)||p; R262X|
|Gene Symbol and Name||Oca2, oculocutaneous albinism II|
|Strain of Origin||Asiatic fancy mice|
|General Note|| |
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).
|Molecular Note||A 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*).|
When using the pink-eyed dilution mouse strain in a publication, please cite the originating article(s) and include JAX stock #001059 in your Materials and Methods section.