Article
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Nature - 7 Jan 1993
Rinchik E M, Bultman S J, Horsthemke B, Lee S T, Strunk K M, Spritz R A, Avidano K M, Jong M T, Nicholls R D
Abstract excerpt
The mouse pink-eyed dilution (p) locus on chromosome 7 is associated with defects of skin, eye and coat pigmentation. Mutations at p cause a reduction of eumelanin (black-brown) pigment and altered morphology of black pigment granules (eumelanosomes), but have little effect on pheomelanin (yellow...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Carrier Proteins
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Crosses, Genetic
- Humans
- Membrane Proteins
- Membrane Transport Proteins
- Mice
- Mice, Inbred Strains
- Models, Genetic
- Molecular Sequence Data
- Mutation