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An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.

Author: BubierJason A, BurgessRobert W, ChristopherMia-Cara, ClarkJames, HanleyCourtany, HarrisBelinda, LiMeihong, MurrayGeorge C, NganChew Yee, ReinholdtLaura, TadenevAbigail L D, TjongHarianto, ZinderOraya J

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, N.I.H., ExtramuralResearch funding provided by the NIH to external research institutions and researchers.

Overview

RORβ, a developmental transcription factor encoded by the RORβ gene, plays crucial roles in retinal and cortical development. Mutations in RORβ are linked to neurodevelopmental disorders, primarily generalized epilepsies, but also including intellectual disability, bipolar disorder, and autism. This study investigates an allelic series of spontaneous Rorb mutant mice with a high-stepping gait phenotype. The study identifies retinal abnormalities in some mutants and significant differences in cognitive behavior. Gene expression analysis reveals a common over-representation of the unfolded protein response and endoplasmic reticulum stress pathways, suggesting a possible mechanism of susceptibility relevant to patients.
Paper Details　
Original Abstract of the Article :
The Retinoid-related orphan receptor beta (RORβ) gene encodes a developmental transcription factor and has 2 predominant isoforms created through alternative first exon usage; one specific to the retina and another present more broadly in the central nervous system, particularly regions involved in ...See full text at original site
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引用元：
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411600/

データ提供：米国国立医学図書館（NLM）

Rorb Mutant Mice: Unveiling the Secrets of Neurodevelopmental Disorders

The Retinoid-related orphan receptor beta (RORβ) gene plays a crucial role in brain development, particularly in the retina and regions involved in sensory processing. Mutations in this gene can lead to a range of neurodevelopmental disorders. This study investigated the effects of RORβ mutations in a series of spontaneous Rorb mutant mice.

Unraveling the Mysteries of RORβ Mutations

The study revealed a high-stepping gait phenotype in all five strains of Rorb mutant mice. Furthermore, the researchers observed retinal abnormalities and significant differences in behavioral phenotypes related to cognition. Gene expression analyses revealed an overrepresentation of the unfolded protein response and pathways related to endoplasmic reticulum stress, suggesting a possible mechanism of susceptibility relevant to patients with neurodevelopmental disorders.

Exploring the Links Between Genetics and Brain Development

This research offers valuable insights into the complex interplay between genetics and brain development. Understanding the mechanisms by which RORβ mutations affect brain function and behavior can lead to a better understanding of neurodevelopmental disorders and potentially inform the development of new therapeutic strategies. It’s like exploring a vast desert of genes and pathways, seeking to uncover the hidden connections that influence brain development and behavior.

Dr. Camel's Conclusion

The intricate world of neurodevelopment is like a vast and complex desert, filled with hidden pathways and intricate connections. This research provides a compass, guiding us toward a better understanding of RORβ mutations and their impact on brain function. It's a reminder that unraveling the mysteries of the brain requires careful observation, meticulous analysis, and a relentless pursuit of knowledge.
Date :
  1. Date Completed 2023-08-10
  2. Date Revised 2023-12-04
Further Info :

Pubmed ID

37300435

DOI: Digital Object Identifier

PMC10411600

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Languages

English

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