Article

Phenotype of mice carrying an NMDA receptor GluN2B protein-truncating variant associated with intellectual disability

2025-10-03

Abstract excerpt

Pathogenic variants in GRIN2B , encoding the NMDA receptor (NMDAR) GluN2B subunit, are linked to intellectual disability (ID) and related neurodevelopmental disorders. While most disease-associated variants are missense, protein-truncating variants (PTVs) may cause haploinsufficiency with less severe phenotypes. Here, we characterize a knock-in mouse model carrying the GluN2B-L825Ffs*15 PTV ( Grin2b +/Δ ). Prote...

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Literature Corpus work: 19000db2-c5d6-5570-8a31-9889ef09f68c
DOI: 10.1101/2025.10.02.680004

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