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Article

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.

European journal of medical genetics - 1 Jan 2009

Girirajan Santhosh, Elsea Sarah H

Abstract excerpt

The retinoic acid induced 1 gene (RAI1) is the primary causative gene for Smith-Magenis syndrome (SMS). Chromosomal deletion encompassing RAI1 or mutation in RAI1 is responsible for the majority of SMS features. Mouse models with targeted disruption of Rai1 have recapitulated overt SMS phenotypes, including craniofacial abnormalities, obesity, and neurobehavioral anomalies. Penetrance and expressivity of most...

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Source

Identifiers

PMID: 19116176
DOI: 10.1016/j.ejmg.2008.12.002

Genes

SMS
RAI1

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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