Behavioral phenotypes of Disc1 missense mutations in mice

Clapcote, Steven J.; Lipina, Tatiana V.; Millar, J. Kirsty; Mackie, Shaun; Christie, Sheila; Ogawa, Fumiaki; Lerch, Jason P.; Trimble, Keith; Uchiyama, Masashi; Sakuraba, Yoshiyuki; Kaneda, Hideki; Shiroishi, Toshihiko; Houslay, Miles D.; Henkelman, R. Mark; Sled, John G.; Gondo, Yoichi; Porteous, David J.; Roder, John C.

doi:10.1016/j.neuron.2007.04.015

Cited by 526Schizophrenia research and treatmentTreatment of Major DepressionNeurotransmitter Receptor Influence on Behavior

Behavioral phenotypes of Disc1 missense mutations in mice

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Clapcote, Steven J., Lipina, Tatiana V., Millar, J. Kirsty, Mackie, Shaun, Christie, Sheila, Ogawa, Fumiaki, Lerch, Jason P., Trimble, Keith +10 more·2007·Neuron

DOI 10.1016/j.neuron.2007.04.015

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Abstract

To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a phosphodiesterase-4 (PDE4) inhibitor. In contrast, L100P mutant mice exhibited schizophrenic-like behavior, with profound deficits in prepulse inhibition and latent inhibition that were reversed by antipsychotic treatment. Both mutant DISC1 proteins exhibited reduced binding to the known DISC1 binding partner PDE4B. Q31L mutants had lower PDE4B activity, consistent with their resistance to rolipram, suggesting decreased PDE4 activity as a contributory factor in depression. This study demonstrates that Disc1 missense mutations in mice give rise to phenotypes related to depression and schizophrenia, thus supporting the role of DISC1 in major mental illness.

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A naturally occurring Disc1 mutation in the 129 strain was segregated from the Δex4-9J−/− deletion but was not reported in other Shank3 mutant mice using 129 ES cells.
“A naturally occurring Disc1 (Disrupted in schizophrenia) mutation in the 129 strain of ES cells (Clapcote et al., 2007; Clapcote and Roder, 2006) was segregated from the Δex4-9J−/− deletion (Wang et al., 2011) but was not reported in other Shank3 mutant mice using mouse 129 ES cells (Peca et al., 2011; Schmeisser et al., 2012).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Clapcote et al., 2007
Synaptic dysfunction and abnormal behaviors have been documented in mice harboring Disc1 mutations.
“Synaptic dysfunction and abnormal behaviors have been documented in mice harboring Disc1 mutations (Clapcote et al., 2007; Kim et al., 2009)”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Clapcote et al., 2007

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Authors: Clapcote, S. J., Lipina, T. V., Millar, J. K., Mackie, S., Christie, S., Ogawa, F., Lerch, J. P., Trimble, K., Uchiyama, M., Sakuraba, Y., Kaneda, H., Shiroishi, T., Houslay, M. D., Henkelman, R. M., Sled, J. G., Gondo, Y., Porteous, D. J., & Roder, J. C.
Affiliations: Mount Sinai Hospital (CA)
University of Edinburgh (GB)
Hospital for Sick Children (CA)
University of Glasgow (GB)
University of Toronto (CA)
Corresponding author: Clapcote, Steven J.
Porteous, David J.
ORCID: Clapcote, Steven J.
Lipina, Tatiana V.
Lerch, Jason P.
Trimble, Keith
Sakuraba, Yoshiyuki
Shiroishi, Toshihiko
Houslay, Miles D.
Henkelman, R. Mark
Sled, John G.
Gondo, Yoichi
Porteous, David J.
Venue: Neuron
Publisher: Elsevier BV
Published: 2007-05
Volume: 54
Issue: 3
Pages: 387-402
ISSN: 0896-6273 (ISSN-L)
DOI: 10.1016/j.neuron.2007.04.015
OpenAlex: W2119856466
Cited by: 526
References: 86
Citations by year: 2026: 1 · 2025: 7 · 2024: 7 · 2023: 11 · 2022: 19 · 2021: 19 · 2020: 20 · 2019: 21 · 2018: 20 · 2017: 32 · 2016: 29 · 2015: 40 · 2014: 30 · 2013: 26 · 2012: 37
FWCI: 29.14
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2305 d)
doi.org/10.15223/policy-017 (stm-asf)
doi.org/10.15223/policy-037 (stm-asf)
doi.org/10.15223/policy-012 (stm-asf)
doi.org/10.15223/policy-029 (stm-asf)
doi.org/10.15223/policy-004 (stm-asf)
Locations: Neuron (publishedVersion)
PubMed (publishedVersion)
Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
Funders: Ministry of Education, Culture, Sports, Science and Technology
Medical Research Council Canada
Canadian Institutes of Health Research (GMH-79044)
Topics: Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
Health Sciences › Medicine › Pharmacology › Treatment of Major Depression
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
Keywords: DISC1, depression, schizophrenia, prepulse inhibition, latent inhibition, bupropion, rolipram, PDE4B, phosphodiesterase 4, antidepressant resistance, antipsychotic drugs, ENU-induced mutation
MeSH terms: Alanine, Animals, Behavior, Animal, Brain, DNA Mutational Analysis, Female, Glutamine, Humans, Leucine, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Nerve Tissue Proteins, Neural Inhibition, Phenotype, Protein Binding, Reflex, Acoustic, Subcellular Fractions, Threonine, 3',5'-Cyclic-AMP Phosphodiesterases, Mutation, Missense, Mice, Cyclic Nucleotide Phosphodiesterases, Type 4

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Behavioral phenotypes of Disc1 missense mutations in mice

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