Disruption of retinoid-related orphan receptor β changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice

The orphan nuclear receptor RORβ is expressed in areas of the central nervous system which are involved in the processing of sensory information, including spinal cord, thalamus and sensory cerebellar cortices. Additionally, RORβ localizes to the three principal anatomical components of the mammalia...

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Veröffentlicht in:The EMBO journal 1998-07, Vol.17 (14), p.3867-3877
Hauptverfasser: André, Elisabeth, Conquet, François, Steinmayr, Markus, Stratton, Sharon C., Porciatti, Vittorio, Becker-André, Michael
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container_end_page 3877
container_issue 14
container_start_page 3867
container_title The EMBO journal
container_volume 17
creator André, Elisabeth
Conquet, François
Steinmayr, Markus
Stratton, Sharon C.
Porciatti, Vittorio
Becker-André, Michael
description The orphan nuclear receptor RORβ is expressed in areas of the central nervous system which are involved in the processing of sensory information, including spinal cord, thalamus and sensory cerebellar cortices. Additionally, RORβ localizes to the three principal anatomical components of the mammalian timing system, the suprachiasmatic nuclei, the retina and the pineal gland. RORβ mRNA levels oscillate in retina and pineal gland with a circadian rhythm that persists in constant darkness. RORβ −/− mice display a duck‐like gait, transient male incapability to sexually reproduce, and a severely disorganized retina that suffers from postnatal degeneration. Consequently, adult RORβ −/− mice are blind, yet their circadian activity rhythm is still entrained by light–dark cycles. Interestingly, under conditions of constant darkness, RORβ −/− mice display an extended period of free‐running rhythmicity. The overall behavioral phenotype of RORβ −/− mice, together with the chromosomal localization of the RORβ gene, suggests a close relationship to the spontaneous mouse mutation vacillans described >40 years ago.
doi_str_mv 10.1093/emboj/17.14.3867
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source MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Wiley Free Content; PubMed Central; Free Full-Text Journals in Chemistry
subjects Animals
Ataxia - genetics
Behavior, Animal
Central Nervous System - chemistry
Chromosome Mapping
Chromosomes, Human, Pair 9 - genetics
circadian
Circadian Rhythm - genetics
Evoked Potentials, Visual
fertility
Humans
Infertility, Male - genetics
Male
Mice
Mice, Transgenic
nuclear receptor
Phenotype
Pineal Gland - chemistry
Rats
Rats, Sprague-Dawley
Receptors, Retinoic Acid - analysis
Receptors, Retinoic Acid - genetics
Receptors, Retinoic Acid - physiology
retina
Retina - chemistry
Retinal Degeneration - genetics
RNA, Messenger - analysis
spinal cord
Suprachiasmatic Nucleus - chemistry
title Disruption of retinoid-related orphan receptor β changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice
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