Mulling over mouse models

Article Abstract:

The problems bedeviling the development of mouse models for genetic disorders are discussed in two articles in the Sep 1992 Nature Genetics. Karen Steel and Richard Smith report the failure to breed a mouse model of the autosomal dominant condition Waardenburg's syndrome that would mirror the ear defects and deafness that are the chief human consequences of this disorder. T. Jordan and colleagues examine a similar failure to devise a mouse model for human aniridia. Learning why these disorders affect mice so differently from how they affect humans may increase knowledge of genetic variation.

Research, Models, Analysis, Genetic disorders, Mice as laboratory animals, House mouse, Animal models in research, Animal research models, Klein-Waardenburg syndrome, Waardenburg's syndrome

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Cloning the Menkes disease gene

Article Abstract:

The gene responsible for Menkes disease has been described by three independent research groups. Deletion or abnormality of the gene interferes with proper cell metabolism of copper which in turn results in the degenerative brain disease. Copper ions are vital cofactors for many enzymes and their deficiency explains the majority of the disease's symptoms. The cloning of the Menkes gene suggests lines of inquiry for other X-linked diseases.

Abnormalities, Genetic aspects, Cell metabolism, Brain diseases, Metabolic, Metabolic brain diseases

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