| First Author | Mori M | Year | 1997 |
| Journal | Mamm Genome | Volume | 8 |
| Issue | 6 | Pages | 407-10 |
| PubMed ID | 9166584 | Mgi Jnum | J:40664 |
| Mgi Id | MGI:708025 | Doi | 10.1007/s003359900457 |
| Citation | Mori M, et al. (1997) A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse. Mamm Genome 8(6):407-10 |
| abstractText | We have investigated the cDNA sequence of the copper- transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease. A point mutation (T to C) that results in substitution of proline for serine in a putative eighth transmembrane domain of the ATP7A was identified. This contrasts with abnormalities identified in the Atp7a of other mottled mouse strains: lack of expression of Atp7a mRNA in the dappled mouse, and a splicing mutation in the blotchy mouse. |
