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Article

Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 3 Apr 2024

Deehan Mark A, Kothuis Josine M, Sapp Ellen, Chase Kathryn, Ke Yuting, Seeley Connor, Iuliano Maria, Kim Emily, Kennington Lori, Miller Rachael, Boudi Adel, Shing Kai, Li Xueyi, Pfister Edith, Anaclet Christelle, Brodsky Michael, Kegel-Gleason Kimberly, Aronin Neil, DiFiglia Marian

Abstract excerpt

A missense mutation in the transcription repressor Nucleus accumbens-associated 1 (NACC1) gene at c.892C>T (p.Arg298Trp) on chromosome 19 causes severe neurodevelopmental delay ( Schoch et al., 2017). To model this disorder, we engineered the first mouse model with the homologous mutation (Nacc1+/R284W ) and examined mice from E17.5 to 8 months. Both genders had delayed weight gain, epileptiform discharges and...

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Identifiers

PMID: 38388424
DOI: 10.1523/JNEUROSCI.1610-23.2024
PMCID: PMC10993038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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