| First Author | Ohta Y | Year | 1997 |
| Journal | Biochem Mol Biol Int | Volume | 43 |
| Issue | 4 | Pages | 913-8 |
| PubMed ID | 9385451 | Mgi Jnum | J:46349 |
| Mgi Id | MGI:1197743 | Doi | 10.1080/15216549700204721 |
| Citation | Ohta Y, et al. (1997) Occurrence of two missense mutations in Cu-ATpase of the macular mouse, a menkes disease model. Biochem Mol Biol Int 43(4):913-918 |
| abstractText | We have investigated the genetic defect of the Cu-ATPase gene (Atp7a) in the macular mouse, a genetic model of classical Menkes disease. Northern blot analysis showed that its placenta and kidney possess a normal amount of the Cu-ATPase mRNA of the normal size; sequencing analysis revealed two missense mutations, His674Arg and Ser1381Pro, in a PCR-amplified cDNA for mutant Cu-ATPase. The latter mutation was suspected to affect the function of the ATPase, because it lies in the transmembrane segment that is thought to form a channel for the transportation of copper ions. |
