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Article

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

The Journal of clinical investigation - 1 Nov 2006

Walz Katherina, Paylor Richard, Yan Jiong, Bi Weimin, Lupski James R

Abstract excerpt

Genomic disorders are conditions that result from DNA rearrangements, such as deletions or duplications. The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is important for the elucidation of genes responsible for complex neurobehavioral phenotypes. Smith-Ma...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17024248
DOI: 10.1172/JCI28953
PMCID: PMC1590269

Genes

RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17024248-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).PMID 17024248Read ↗

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

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

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.Semantic proximity Read ↗

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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 ↗

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.Semantic proximity Read ↗

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