B6By.Cg-Oca2^p/J

Stock number: 001059
Product name: pink-eyed dilution
Research areas: Dermatology Research, Mouse/Human Gene Homologs, Neurobiology Research

Description

These mice carry a spontaneous mutation at the Oca2 locus characterized by grey coat color with pink eyes.

Detailed description

A normal-size Oca2^p mRNA is present in the skin of mice homozygous for the Oca2^p mutation, but in greatly reduced amounts; thus, this appears to be a hypomorphic rather than a null allele. B6By.Cg-Oca2^p/Oca2^p/J mice are grey with pink eyes. The Oca2^p 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).

Development

Pink-eyed dilution (Oca2^p) is an old mutation of the mouse fancy. It was introduced onto the C57BL/6By background by repeated backcrossing to the host strain.

Allele

Symbol: Oca2^p
Name: pink-eyed dilution
MGI accession ID: MGI:1856114
Generation method: Spontaneous
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Chromosome: 7
Strain of origin: Asiatic fancy mice
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*).
General note:

Oca2^p 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).