CEREBELLAR PURKINJE CELL LOSS IN HETEROZYGOUS RORA+/-MICE: A LONGITUDINAL STUDY
type: Dataset
contact point: Organization
  fn: CCSD
keyword: cerebellum
keyword: infoeu-reposemanticsarticle
keyword: neuronal-death
keyword: aging
keyword: sdvneulife-sciences-q-bioneurons-and-cognition-q-bionc
keyword: acm
keyword: mutant-mice
keyword: journal-articles
landing page: 0167-7063
description: The staggerer (sg/sg) mutation is a spontaneous deletion in the Rora gene that prevents the translation of the ligand-binding domain (LBD), leading to the loss of RORα activity. The homozygous Rorasg/sg mutant mouse, whose most obvious phenotype is ataxia associated with cerebellar degeneration, also displays a variety of other phenotypes. The heterozygous Rora+/sg is able to develop a cerebellum which is qualitatively normal but with advancing age suffers a significant loss of cerebellar neuronal cells. A truncated protein synthesized by the mutated allele may play a role, both in Rorasg/sg and Rora+/sg. To determine the effects during life span of true haplo-insufficiency of the RORα protein, derived from the invalidation of the gene, we compared the evolution of Purkinje cell numbers in heterozygous Rora knock-out males (Rora+/-) and in their wildtype counterparts from 1 to 24 months of age. We also compared the evolution of Purkinje cell numbers in Rora+/- and Rora+/sg males from 1 to 9 months. The main finding is that in Rora+/- mice, when only a half dose of protein is synthesized, the deficit was already established at 1 month and did not change during life span. Thus, the effects of aging on PC number were apparent much earlier in Rora+/- than in Rora+/sg, although at 24 months of age the deficit was similar.
issued: 2026-05-14T17:49:30.816539
language: en
modified: 2026-05-14T17:49:30.816544

test_moissonnage_selune
type: Agent

CEREBELLAR PURKINJE CELL LOSS IN HETEROZYGOUS RORA+/-MICE: A LONGITUDINAL STUDY
type: Distribution
access URL: https://hal.science/hal-00078419
format: HTML
issued: 2026-05-14T17:49:30.840322
modified: 2026-05-14T17:49:30.794981