Article

Genetic and stochastic basis of phenotypic discordance in 16p11.2 mouse model deletion

2026-08-04

Abstract excerpt

Recurrent copy number variations such as the 16p11.2 deletion (del/+) represent a significant genetic risk for neurodevelopmental disorders, showing incomplete penetrance and variable expressivity. Here we describe a striking discordance in a genetic mouse model of human 16p11.2 deletion. Using electrocorticography experiments, we detected that approximately 50% of the isogenic del/+ mice exhibited increased susce...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f276906a-b427-5f7c-9480-f1a90adc653c
DOI: 10.64898/2026.07.29.741187

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic and stochastic basis of phenotypic discordance in 16p11.2 mouse model deletionDOI 10.64898/2026.07.29.741187Read

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.Semantic proximity Read

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hubSemantic proximity Read

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.Semantic proximity Read

Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seqSemantic proximity Read

Whole-brain cellular-resolution functional network properties of seizure susceptibilitySemantic proximity Read

Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived <i>SLC6A1</i> S295L mutation-associated neurodevelopmental epilepsySemantic proximity Read

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal modelsSemantic proximity Read

Collaborative Cross mice reveal extreme epilepsy phenotypes and genetic loci for seizure susceptibility.Semantic proximity Read

Longitudinal deep phenotyping in a mouse model of West syndrome reveals temporal dynamics of synapse remodeling, gliosis, and proteomic and lipidomic changes during seizure evolutionSemantic proximity Read

RNA Sequencing Demonstrates Ex Vivo Neocortical Transcriptomic Changes Induced by Epileptiform Activity in Male and Female MiceSemantic proximity Read

Multidimensional Genetic Analysis of Repeated Seizures in the Hybrid Mouse Diversity Panel Reveals a Novel Epileptogenesis Susceptibility Locus.Semantic proximity Read

Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoidsSemantic proximity Read