In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.

ABSTRACT: Schaaf-Yang syndrome (SYS, OMIM #615547) is a rare neurodevelopmental disorder caused by truncating variants in the maternally imprinted MAGEL2 gene. It is characterized by intellectual disability, autism spectrum disorder, joint contractures, and feeding difficulties. Although MAGEL2 is deleted in most cases of Prader-Willi syndrome (PWS, OMIM #176270), SYS presents with more severe symptoms, suggesting pathogenic effects of truncated MAGEL2 beyond a mere loss of function. This study expands the behavioral characterization of a novel rat model ("Magel2^Pmut rats") which carries a truncating mutation on the paternal allele of Magel2, offering greater construct validity for SYS than previous animal models with Magel2 deletion. While an initial study provided first insights, key do

SUBMITTER: Franke F 

PROVIDER: S-EPMC12575713 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature