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Article

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Human molecular genetics - 1 Aug 2007

Bi Weimin, Yan Jiong, Shi Xin, Yuva-Paylor Lisa A, Antalffy Barbara A, Goldman Alica, Yoo Jong W, Noebels Jeffrey L, Armstrong Dawna L, Paylor Richard, Lupski James R

Abstract excerpt

Smith-Magenis syndrome (SMS) is associated with an approximately 3.7 Mb common deletion in 17p11.2 and characterized by its craniofacial and neurobehavioral abnormalities. The reciprocal duplication leads to dup(17)(p11.2p11.2) associated with the Potocki-Lupski syndrome (PLS), a neurological dis...

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Source

Identifiers

PMID: 17517686
DOI: 10.1093/hmg/ddm128

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17517686-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.PMID 17517686Read ↗

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.Semantic proximity Read ↗

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski SyndromesSemantic proximity Read ↗

Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.Semantic proximity Read ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).Semantic proximity Read ↗

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.Semantic proximity Read ↗

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Semantic proximity Read ↗

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Semantic proximity Read ↗

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.Semantic proximity Read ↗

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.Semantic proximity Read ↗

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Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith-Magenis syndrome.Semantic proximity Read ↗

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