Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.

doi:10.1007/s00018-025-06057-1

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.

Cellular and molecular life sciences : CMLS - 30 Jan 2026

Fili Klevinda, Kuchtiak Viktor, Tomovic Eni, Candelas Serra Miriam, Kubik-Zahorodna Agnieszka, Harant Karel, Bozikova Paulina, Cerny Jiri, Korinek Miloslav, Hrcka Krausova Barbora, Abramova Vera, Dobrovolski Mark, Abdel Rahman Fatma Elzahraa S, Prochazka Jan, Balik Ales, Smejkalova Tereza, Vyklicky Ladislav

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). Proteomic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Behavior, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Excitatory Postsynaptic Potentials

Share to Gene Knock-In Techniques

Share to Hippocampus

Share to Intellectual Disability

Share to Neurons

Share to Protein Subunits

Share to Receptors, N-Methyl-D-Aspartate

Source

Open in PubMed Open full text

Identifiers

PMID: 41615455
DOI: 10.1007/s00018-025-06057-1
PMCID: PMC12876548

Genes

GRIN2B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.PMID 41615455Read ↗

Phenotype of mice carrying an NMDA receptor GluN2B protein-truncating variant associated with intellectual disabilitySemantic proximity Read ↗

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.Semantic proximity Read ↗

Functional Analysis of Human GRIN2A Mutations Associated with Schizophrenia and Neurodevelopmental Disorders Reveals Distinct Pathological MechanismSemantic proximity Read ↗

Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.Semantic proximity Read ↗

Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant ClassificationSemantic proximity Read ↗

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.Semantic proximity Read ↗

Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.Semantic proximity Read ↗

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.Semantic proximity Read ↗

Human GRIN2B variants in neurodevelopmental disorders.Semantic proximity Read ↗

Differential Functional Consequences of <i>GRIN2A</i> Mutations Associated with Schizophrenia and Neurodevelopmental DisordersSemantic proximity Read ↗

Distinct roles of GRIN2A and GRIN2B variants in neurological conditionsSemantic proximity Read ↗

NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease ModelsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.