title: [Genetic relationship of two mutant genes which producing three different syndromes in the mouse (author's transl)].
abstract: We determined that leaner gene (la) is located in the linkage group XVIII and closely linked to Es-1, which is known to be located closely to tottering gene (tg). Double heterozygote (la/tg) produced by mating between la heterozygote and tg heterozygote showed an intermediate syndrome between those seen in tottering (tg/tg) and leaner (la/la) mice. Both leaner and tottering mice showed neuromuscular disorders, but their clinical and pathological characteristics were different. Leaner mice were found to represent a so-called cerebellar mutant having the reduced size of cerebellum and severe cytoarchitectonic abnormalities with focal losses of Purkinje and granular layer cells. Tottering was, however, another mutation having epileptiform seizures, and it was characterized pathologically by cellular losses and shrinkage as well as vesiculations of cytoplasmic membranous structures in the cerebellum. The double heterozygote was shown to have both pathologic characteristics seen in each homozygote, and also showed shrinkage of Purkinje cells and vesiculation of the endoplasmic reticulum and Golgi apparatus. These clinical and pathological findings supported the genetic data suggesting that la and tg constitute an allele.
mesh_terms: D000483:Alleles; D000818:Animals; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006056:Golgi Apparatus / Q000648:ultrastructure; D006579:Heterozygote; D008297:Male; D051379:Mice; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D011689:Purkinje Cells / Q000648:ultrastructure