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Topic: GRIN1-G620R

ePoster
1 ePoster

In Neuroscience

Distinct deficits drive NMDA receptor loss of synaptic function in G620R and G827R GRIN1 missense mouse models

Patrick Tidball, Jinyeol Lee, Jonathan Thacker, Shinwon Kang, Yeseul Lee, Fuzi Jin, John Georgiou, Graham L. Collingridge · FENS Forum 2024

GRIN disorders are rare neurodevelopmental disorders caused by pathogenic variants in the GRIN genes that encode the N-methyl-D-aspartate receptor (NMDAR) subunits. Two such missense variants of the GluN1 subunit, GRIN1-G620R and GRIN1-G827R, have been identified in multiple patients with profound intellectual disability and developmental delay. To understand the nature of the NMDAR deficits imparted by these variants, we generated Grin1 G620R and G827R mouse models that mimic the heterozygous condition found in affected individuals. Synaptic function was assessed using electrophysiological re

ePoster · Neuroscience