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A truncating mutation of Magel2 in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes
[article]
2022
bioRxiv
pre-print
ABSTRACTTruncating mutations of the maternally imprinted, paternally expressed MAGEL2 gene are the predicted genetic cause of several rare neurodevelopmental disorders including Schaaf-Yang (SYS), Chitayat-Hall and Opitz Trigonocephaly C syndromes. MAGEL2 is also deleted or inactivated in Prader-Willi syndrome (PWS). Previous studies in mice have utilized Magel2 gene deletion models to examine the consequences of its absence. In this study, we report the generation, molecular validation, and
doi:10.1101/2022.08.09.503377
fatcat:4gtcwswkvzgepgjjtrl7ehlf3a