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Article

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

European journal of human genetics : EJHG - 1 Aug 2008

Girirajan Santhosh, Patel Nisha, Slager Rebecca E, Tokarz Mary E, Bucan Maja, Wiley Jenny L, Elsea Sarah H

Abstract excerpt

The retinoic acid induced 1 (RAI1) gene when deleted or mutated results in Smith-Magenis syndrome (SMS), while duplication of 17p11.2, including RAI1, results in the dup(17)(p11.2) syndrome characterized by mental retardation, growth and developmental delays, and hyperactivity. Mouse models for these human syndromes may help define critical roles for RAI1 in mammalian development and homeostasis that otherwise...

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Source

Identifiers

PMID: 18285828
DOI: 10.1038/ejhg.2008.21

Genes

RAI1
SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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How much is too much? Phenotypic consequences of Rai1 overexpression in mice.PMID 18285828Read ↗

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

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