Oca2^p
Spontaneous Allele Detail

Summary

• Symbol: Oca2^p
• 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: Oca2^p page

Mutation origin

• Strain of Origin: Asiatic fancy mice

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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*). (J:259613)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Oca2^p

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: 70 strains or lines available

Notes

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).

References

• Original: J:211024 Durham FM, Further experiments on the inheritance of coat colour in mice. J Genet. 1911;1(3):159-178
• All: 33 reference(s)