A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse.

Journal article

The robotic mouse is an autosomal dominant mutant that arose from a large-scale chemical mutagenesis program. It has a jerky, ataxic gait and develops adult-onset Purkinje cell loss in the cerebellum in a striking region-specific pattern, as well as cataracts. Genetic and physical mapping of the disease locus led to the identification of a missense mutation in a highly conserved region of Af4, a putative transcription factor that has been previously implicated in leukemogenesis. We demonstrat...

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Authors: Isaacs, A; Oliver, P; Jones, E; Jeans, A; Potter, A

• Publication status: Published
• Journal: Journal of neuroscience : the official journal of the Society for Neuroscience
• Volume: 23
• Issue: 5
• Pages: 1631-1637
• Publication date: 2003-03-01
• EISSN: 1529-2401
• ISSN: 0270-6474
• Language: English
• Keywords: Nuclear Proteins; Cell Count; Flow Cytometry; Disease Models, Animal; Cerebellar Ataxia; Conserved Sequence; Disease Progression; Thymus Gland; DNA-Binding Proteins; Mice, Neurologic Mutants; Genes, Dominant; Mice; Molecular Sequence Data; Point Mutation; Animals; Mutagenesis; Cerebellum; Organ Specificity; Purkinje Cells; Amino Acid Sequence; Physical Chromosome Mapping; Cataract; Sequence Homology, Amino Acid; Antigens, CD