title: Unique cerebellar phenotype combining granule and Purkinje cell loss: morphological evidence for weaver* pcd double mutant mice.
abstract: Weaver (wv/wv) mutant mice lose most granule cells of the cerebellum during the first 2 weeks of postnatal life; 'Purkinje cell degeneration' (pcd/pcd) mutants lose virtually all Purkinje cells between postnatal days 17 and 45. Both these neurological mutations are autosomal recessive. We designed a breeding protocol that, in theory, should result in the production of mice with a doubly mutant, wv/wv*pcd/pcd, genotype. Some of the offspring of such crosses had a novel cerebellar phenotype in which both granule and Purkinje cells underwent degeneration, leading to a highly atrophic cortex. This phenotype is what would be expected in wv/wv*pcd/pcd double mutants, and the proportion of such progeny obtained fits with genetic expectations. We propose that (1) wv/wv*pcd/pcd double mutant mice are viable, and (2) the anatomical phenotype of such mice is a combined expression of the component phenotypes.
authors.affiliation: Department of Pathology, Indiana University School of Medicine, Indianapolis 46202.
authors.forename: B
authors.initials: B
authors.lastname: Ghetti
authors.forename: L C
authors.initials: LC
authors.lastname: Triarhou
authors.forename: C J
authors.initials: CJ
authors.lastname: Alyea
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: R C
authors.initials: RC
authors.lastname: Karn
mesh_terms: D000375:Aging; D000818:Animals; D015415:Biomarkers; D002135:Calcium-Binding Proteins / Q000032:analysis; D002525:Cerebellar Cortex / Q000254:growth & development / Q000473:pathology* / Q000648:ultrastructure; D002531:Cerebellum / Q000254:growth & development / Q000473:pathology* / Q000648:ultrastructure; D003433:Crosses, Genetic; D003594:Cytoplasmic Granules / Q000648:ultrastructure*; D005260:Female; D005838:Genotype; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D008854:Microscopy, Electron; D010641:Phenotype; D011689:Purkinje Cells / Q000473:pathology* / Q000648:ultrastructure
chemical_list: D015415:Biomarkers; D002135:Calcium-Binding Proteins