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Article

Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene.

eNeuro - 1 Jan 2018

Drapeau Elodie, Riad Mohammed, Kajiwara Yuji, Buxbaum Joseph D

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a rare genetic disorder in which one copy of the SHANK3 gene is missing or mutated, leading to a global developmental delay, intellectual disability (ID), and autism. Multiple intragenic promoters and alternatively spliced exons are responsible for the formation of numerous isoforms. Many genetically-modified mouse models of PMS have been generated but most disrupt only some of...

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Identifiers

PMID: 30302388
DOI: 10.1523/ENEURO.0046-18.2018
PMCID: PMC6175061

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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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