| First Author | Neumann P | Year | 1989 |
| Journal | Mouse News Lett | Volume | 83 |
| Pages | 156 | Mgi Jnum | J:14991 |
| Mgi Id | MGI:63137 | Citation | Neumann P, et al. (1989) Insertional mutation at the pcd locus in transgenic mice. Mouse News Lett 83:156 |
| abstractText | Full text of MNL contribution: 1. Insertional mutation at the pcd locus in transgenic mice. We have previously reported a transgenic mouse pedigree (P447) with an insertional mutation at the hotfoot locus (MNL 81:59, 1988), which has subsequently been named hoJwg. A different neurologic mutant phenotype has been identified in another pedigree of transgenic mice (P432). Both transgenic lines were established by microinjection of pFR400, a 4.4 kb recombinant plasmid carrying an altered dihydrofolate reductase gene (Mol Cell Biol 6:2158-2167, 1986). Mice homozygous for the transgene in the P432 pedigree develop ataxia at about three weeks of age. The behavioral and neuropathologic features are similar to Purkinje cell degeneration (pcd). There is rapid degeneration of Purkinje cells and slower degeneration of retinal photoreceptors and mitral cells of the olfactory bulb. Some homozygous males are fertile, unlike pcd (PNAS 73:208-212, 1976). Seven of ten offspring from a cross between a male hemizygous for the transgene and a pcd2J/pcd2J female displayed the mutant phenotype. Only those that displayed the mutant phenotype had a copy of the transgene. The new insertional mutation has been named pcdJwg because it appears to be allelic to pcd (PNAS, in press). (Paul Neumann with Thomas F. Krulewski and Jon W. Gordon, Mt. Sinai School of Medicine, New York). |
