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Article

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.

Disease models & mechanisms - 1 Feb 2023

Reznik Derek L, Yang Mingxiao V, Albelda de la Haza Pedro, Jain Antrix, Spanjaard Melanie, Theiss Susanne, Schaaf Christian P, Malovannaya Anna, Strong Theresa V, Veeraragavan Surabi, Samaco Rodney C

Abstract excerpt

Previous studies in mice have utilized Magel2 gene deletion models to examine the consequences of its absence. We report the generation, molecular validation and phenotypic characterization of a novel rat model with a truncating Magel2 mutation modeling variants associated with Schaaf-Yang syndrome-causing mutations. Within the hypothalamus, a brain region in which human MAGEL2 is paternally expressed, we...

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Identifiers

PMID: 36637363
DOI: 10.1242/dmm.049829
PMCID: PMC9922728

Genes

MAGEL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.PMID 36637363Read ↗

A truncating mutation of <i>Magel2</i> in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomesSemantic proximity Read ↗

In-depth behavioral characterization of a rat model of Schaaf-Yang syndromeSemantic proximity Read ↗

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.Semantic proximity Read ↗

Magel2 deficiency promotes cardiac remodeling and increases arrhythmogenic susceptibility in a mouse model relevant to Prader-Willi and Schaaf-Yang syndromes.Semantic proximity Read ↗

The adult phenotype of Schaaf-Yang syndrome.Semantic proximity Read ↗

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.Semantic proximity Read ↗

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

MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Semantic proximity Read ↗

Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in MammalsSemantic proximity Read ↗

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.Semantic proximity Read ↗

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