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| MUTATIONS IN THE MURINE HOMOLOG OF THE MENKES GENE IN DAPPLED AND BLOTCHY MICE |
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| Author(s): MERCER JFB, GRIMES A, AMBROSINI L, LOCKHART P, PAYNTER JA, DIERICK H, GLOVER TW |
| Source: NATURE GENETICS Volume: 6 Issue: 4 Pages: 374-378 Published: APR 1994 |
| Times Cited: 85 References: 16 |
| Abstract: The murine homologue of the Menkes disease gene (MNK) was isolated from cDNA libraries, using human cDNA clones as probes, and by PCR. The predicted amino acid sequence shows a high level of identity (89.9%) with the human protein, and the predicted functional domains in the human protein are present. Using probes to the mouse Mnk gene, we found that the mottled dappled mutation was caused by alteration in the Mnk locus and lack of expression of Mnk RNA. Tissues of the blotchy mouse contained two larger sizes of MNK mRNA demonstrating a likely defect in RNA splicing. Thus, the mottled locus is homologous to the human MNK locus and dappled and blotchy are allelic mutations in this gene. |
| Document Type: Article |
| Language: English |
| Reprint Address: MERCER, JFB (reprint author), MURDOCH INST, SCOBIE & CLAIRE MACKINNON TRACE ELEMENT GRP, PARKVILLE, VIC 3052 AUSTRALIA |
Addresses:
1. UNIV MICHIGAN, DEPT PEDIAT, ANN ARBOR, MI USA
2. UNIV MICHIGAN, DEPT HUMAN GENET, ANN ARBOR, MI USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: ND870 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |