PUBLICATION
Mottled Mice and Non-Mammalian Models of Menkes Disease
- Authors
- Lenartowicz, M., Krzeptowski, W., Lipiński, P., Grzmil, P., Starzyński, R., Pierzchała, O., Møller, L.B.
- ID
- ZDB-PUB-160107-10
- Date
- 2015
- Source
- Frontiers in molecular neuroscience 8: 72 (Review)
- Registered Authors
- Keywords
- ATP7A, Menkes disease, copper metabolism, mottled mice
- MeSH Terms
- none
- PubMed
- 26732058 Full text @ Front. Mol. Neurosci.
Citation
Lenartowicz, M., Krzeptowski, W., Lipiński, P., Grzmil, P., Starzyński, R., Pierzchała, O., Møller, L.B. (2015) Mottled Mice and Non-Mammalian Models of Menkes Disease. Frontiers in molecular neuroscience. 8:72.
Abstract
Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critical role in the maintenance of copper homeostasis in cells of the whole body. ATP7A participates in copper absorption in the small intestine and in copper transport to the central nervous system (CNS) across the blood-brain-barrier (BBB) and blood-cerebrospinal fluid barrier (BCSFB). Cu is essential for synaptogenesis and axonal development. In cells, ATP7A participates in the incorporation of copper into Cu-dependent enzymes during the course of its maturation in the secretory pathway. There is a high degree of homology (>80%) between the human ATP7A and murine Atp7a genes. Mice with mutations in the Atp7a gene, called mottled mutants, are well-established and excellent models of Menkes disease. Mottled mutants closely recapitulate the Menkes phenotype and are invaluable for studying Cu-metabolism. They provide useful models for exploring and testing new forms of therapy in Menkes disease. Recently, non-mammalian models of Menkes disease, Drosophila melanogaster and Danio rerio mutants were used in experiments which would be technically difficult to carry out in mammals.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping