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

ABSTRACT: 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 demonstrated, at the level of transcript and peptide detection, that rat Magel2 exhibits a paternal, parent-of-origin effect. In evaluations of behavioral features across several domains, juvenile Magel2 mutant rats displayed alterations in anxiety-like behavior and sociability measures. Moreover, the analysis of peripheral organ systems detected alterations in body composition, cardiac s

SUBMITTER: Reznik DL 

PROVIDER: S-EPMC9922728 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature