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ROR\u03b2 belongs to the nuclear receptor family and plays important roles in cell fate specification in the retina and cortical layer formation. In mice, loss of ROR\u03b2 causes disorganized retina layers, postnatal degeneration, and production of immature cone photoreceptors. Hyperflexion or \u201chigh-stepping\u201d of rear limbs caused by reduced presynaptic inhibition by Rorb-expressing inhibitory interneurons of the spinal cord is evident in ROR\u03b2-deficient mice. ROR\u03b2 variants in patients are associated with susceptibility to various neurodevelopmental conditions, primarily generalized epilepsies, but including intellectual disability, bipolar, and autism spectrum disorders. The mechanisms by which ROR\u03b2 variants confer susceptibility to these neurodevelopmental disorders are unknown but may involve aberrant neural circuit formation and hyperexcitability during development. Here we report an allelic series in 5 strains of spontaneous Rorb mutant mice with a high-stepping gait phenotype. We show retinal abnormalities in a subset of these mutants and demonstrate significant differences in various behavioral phenotypes related to cognition. Gene expression analyses in all 5 mutants reveal a shared over-representation of the unfolded protein response and pathways related to endoplasmic reticulum stress, suggesting a possible mechanism of susceptibility relevant to patients.<\/jats:p>","DOI":"10.1093\/g3journal\/jkad131","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T23:10:03Z","timestamp":1687648203000},"source":"Crossref","is-referenced-by-count":5,"title":["An allelic series of spontaneous <i>Rorb<\/i> mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response"],"prefix":"10.1093","volume":"13","author":[{"given":"George C","family":"Murray","sequence":"first","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"},{"name":"The Graduate School of Biomedical Science and Engineering, University of Maine , Orono, ME 04469 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason A","family":"Bubier","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oraya J","family":"Zinder","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belinda","family":"Harris","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Clark","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mia-Cara","family":"Christopher","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtany","family":"Hanley","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harianto","family":"Tjong","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meihong","family":"Li","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chew Yee","family":"Ngan","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine , Farmington, CT 06032 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Reinholdt","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W","family":"Burgess","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"},{"name":"The Graduate School of Biomedical Science and Engineering, University of Maine , Orono, ME 04469 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail L D","family":"Tadenev","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, ME 04609 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,6,10]]},"reference":[{"issue":"14","key":"2023080915300296300_jkad131-B1","doi-asserted-by":"publisher","first-page":"3867","DOI":"10.1093\/emboj\/17.14.3867","article-title":"Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice","volume":"17","author":"Andre","year":"1998","journal-title":"EMBO J"},{"issue":"2","key":"2023080915300296300_jkad131-B2","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/S0378-1119(98)00348-5","article-title":"A novel isoform of the orphan nuclear receptor RORbeta is specifically expressed in pineal gland and retina","volume":"216","author":"Andre","year":"1998","journal-title":"Gene"},{"issue":"1","key":"2023080915300296300_jkad131-B3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology. 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