Evidence map›Paper›PMID 24151012›Full record

ArticleAutism research : official journal of the International Society for Autism Research2014

Genetic effects on cerebellar structure across mouse models of autism using a magnetic resonance imaging atlas.

Patrick E Steadman, Jacob Ellegood, Kamila U Szulc, Daniel H Turnbull, Alexandra L Joyner, R Mark Henkelman, Jason P Lerch

Abstract read
In one paragraph

Article in Autism research : official journal of the International Society for Autism Research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.

0numbers the graph read from it
0cells of the map it votes in
102citing papers in PubMed
4.4field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

102 citing papers in PubMed, 192 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2026
    Article
  6. Correspondence of large-scale functional brain network decline across aging mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  7. Article
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  12. Neurodevelopmental Impacts of Ketamine and Alfaxalone Anesthesia Evaluated with Mouse MRI.Journal of the American Association for Laboratory Animal Science : JAALAS · 2025
    Article
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42 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 5 institutions in 2 countries.

Patrick E SteadmanMouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
Jacob Ellegood
Kamila U Szulc
Daniel H Turnbull
Alexandra L Joyner
R Mark Henkelman
Jason P Lerch
University of Toronto · CAHebrew Union College - Jewish Institute of Religion · USHospital for Sick Children · CAMemorial Sloan Kettering Cancer Center · USNew York University · US

Funding

Ultrasound and MR Imaging of Mouse Brain Development.R01NS038461 · NINDS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI TURNBULL, DANIEL H · 1999 to 2016
$6.5M
CIHR MOP-106418NINDS NIH HHS R01 NS038461
6 · The paper itself

Abstract

Magnetic resonance imaging (MRI) of autism populations is confounded by the inherent heterogeneity in the individuals' genetics and environment, two factors difficult to control for. Imaging genetic animal models that recapitulate a mutation associated with autism quantify the impact of genetics on brain morphology and mitigate the confounding factors in human studies. Here, we used MRI to image three genetic mouse models with single mutations implicated in autism: Neuroligin-3 R451C knock-in, Methyl-CpG binding protein-2 (MECP2) 308-truncation and integrin β3 homozygous knockout. This study identified the morphological differences specific to the cerebellum, a structure repeatedly linked to autism in human neuroimaging and postmortem studies. To accomplish a comparative analysis, a segmented cerebellum template was created and used to segment each study image. This template delineated 39 different cerebellar structures. For Neuroligin-3 R451C male mutants, the gray (effect size (ES) = 1.94, FDR q = 0.03) and white (ES = 1.84, q = 0.037) matter of crus II lobule and the gray matter of the paraflocculus (ES = 1.45, q = 0.045) were larger in volume. The MECP2 mutant mice had cerebellar volume changes that increased in scope depending on the genotype: hemizygous males to homozygous females. The integrin β3 mutant mouse had a drastically smaller cerebellum than controls with 28 out of 39 cerebellar structures smaller. These imaging results are discussed in relation to repetitive behaviors, sociability, and learning in the context of autism. This work further illuminates the cerebellum's role in autism.

Indexed as

Brain MappingDisease Models, AnimalDNA Mutational AnalysisMagnetic Resonance ImagingAnimalsCell Adhesion Molecules, NeuronalCerebellumChild Development Disorders, PervasiveFemaleGene Knock-In TechniquesGenotypeHomozygoteIntegrin beta3MaleMembrane ProteinsMethyl-CpG-Binding Protein 2Cell Adhesion Molecules, NeuronalIntegrin beta3Mecp2 protein, mouseMembrane ProteinsMethyl-CpG-Binding Protein 2Nerve Tissue Proteinsneuroligin 3animal modelsgeneticsneuroanatomyneuroimagingstructural MRI

Identifiers

PMID24151012
PMCPMC4418792
OpenAlexW1827567735

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.