| First Author | Schmidt A | Year | 1994 |
| Journal | Proc Natl Acad Sci U S A | Volume | 91 |
| Issue | 11 | Pages | 4756-60 |
| PubMed ID | 8197131 | Mgi Jnum | J:18620 |
| Mgi Id | MGI:67049 | Doi | 10.1073/pnas.91.11.4756 |
| Citation | Schmidt A, et al. (1994) Molecular basis of dark-eyed albinism in the mouse. Proc Natl Acad Sci U S A 91(11):4756-60 |
| abstractText | Dark-eyed albino (C44H) is a recessive allele at the mouse albino (c) locus, which encodes tyrosinase (monophenol,L-dopa:oxygen oxidoreductase, EC 1.14.18.1), the key enzyme in melanin synthesis. Similar to type IB oculocutaneous albinism in humans, overall production of pigment is greatly reduced in dark-eyed albino mice and obvious only in the eyes. We have studied the molecular basis of the c44H mutation and show that expression of the tyrosinase gene is not affected. After sequencing tyrosinase cDNA isolated from c44H/c44H homozygotes, we uncovered a single base alteration from wild type leading to a serine-to-isoleucine exchange. The importance of this mutation was demonstrated by generating transgenic mice containing a mutated tyrosinase minigene. This showed that the single base change was sufficient to severely depress pigment production in transgenic mice. We therefore conclude that the point mutation is responsible and sufficient to generate the dark-eyed albino phenotype. |
