Insertional Mutation in a Transgenic Mouse Allelic with Purkinje Cell Degeneration

• Published in: Proceedings of the National Academy of Sciences - PNAS 1989-05, Vol.86 (10), p.3709-3712
• Main Authors: Krulewski, Thomas F., Neumann, Paul E., Gordon, Jon W.
• Format: Article
• Language: English
• Subjects: Alleles; Animals; Biological and medical sciences; Blotting, Southern; Cloning, Molecular; DNA; DNA probes; Fundamental and applied biological sciences. Psychology; Genetic loci; Genetic mutation; Infertility, Male - genetics; Male; Male animals; Mice; Mice, Transgenic; Molecular and cellular biology; Molecular genetics; Mutagenesis. Repair; Mutation; Nerve Degeneration; Phenotype; Photoreceptors; Purkinje cells; Purkinje Cells - pathology; Spermatogenesis; Transgenes; Transgenic animals
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.86.10.3709

Purkinje cell degeneration (pcd) is an autosomal recessive mutation which maps to chromosome 13 in the mouse. The pcd mutation causes loss of cerebellar Purkinje cells, retinal photoreceptor cells, and olfactory bulb mitral cells, as well as abnormalities of spermatogenesis. pcd is among a number of autosomal receissive mutations in mice and humans that affect neurologic function and male fertility. The cloning of one or more of these loci would contribute significantly to our understanding of the genetic control of development and maintenance of affected cell types. We report here identification of a transgenic mouse line with an insertional mutation that is allelic with pcd and manifests histopathologic features indistinguishable from those of the spontaneous mutation. The creation of an allele of pcd by transgene insertion should make possible the cloning of the pcd locus.