Dr. Ype Elgersma
February 4, 2021

An AS 15q11-13 deletion mouse model

$198,000 Existing mouse models have a deletion of only UBE3A, which models a UBE3A mutation.  This project will develop two new mouse models to determine how the other genes missing in the AS deletion (as opposed to UBE3A mutation) contribute […]

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January 23, 2020

GABA beta3 Deficient Mice

$10,000 The gene that is defective in AS is UBE3A and in 70% of individuals who have AS this gene and genes nearby it are deleted from chromosome 15. This project sought to determine if one of the adjacent genes […]

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