Insertional mutation in a transgenic mouse allelic with Purkinje cell degeneration.

AUTOR(ES)

Krulewski, T F

RESUMO

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 recessive 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.

Documentos Relacionados

• Purkinje cell degeneration, a new neurological mutation in the mouse.
• Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice.
• A Transgene-Induced Mitotic Arrest Mutation in the Mouse Allelic with Oligosyndactylism
• Characterization of a cDNA encoding a 34-kDa Purkinje neuron protein recognized by sera from patients with paraneoplastic cerebellar degeneration.
• Red blood cell antioxidant enzymes in age-related macular degeneration.