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. Author manuscript; available in PMC: 2020 Mar 8.
Published in final edited form as: Prog Neuropsychopharmacol Biol Psychiatry. 2018 Aug 28;89:57–64. doi: 10.1016/j.pnpbp.2018.08.017

Table 1:

Mouse models of regulatory ASD genes (CHD8, FOXP1, RBFOX1).

Reference Strategy
Used
Morphological
Phenot
Behavioral
Phenotype
Physiological
Deficits
Downstream Targets
CHD8 Katayama et al49, 2016 Heterozygous s knockout (Cre-mediated) macrocephaly Increased anxiety, deficits in social behaviour, normal learning n.d. neuronal development, REST complex
Durak et al.51, 2016 in utero knockdown (in developing cortex) Defective neural progenitor proliferation deficits in social behaviour, normal learning n.d. cell cycle, Wnt signaling
Platt et al.53, 2017 heterozygou s knockout (CRISPR-mediated) macrocephaly mild social defects, increased anxiety, no repetative behaviour, increased acquired motor learning decreased inhibitory signaling in SPNs of Nac chromatin remodelling, mRNA processing, cell cycle, Wnt signaling
Gompers et al.52, 2016 heterozygou s knockout (CRISPR-mediated) macrocephaly normal social behaviour, no repetative behaviour, learning and memory impairment n.d. RNA processing, chromatin remodelling, cell cycle
Suetterlin et al.50, 2018 heterozygou s knockout (Cre-mediated) macrocephaly normal social behaviour, delayed motor development, hypoactivity in adults n.d. CNS development, cell adhesion, axon guidance
FOXP1 Bacon et al.65, 2015 brain-specific knockout (Nestin.Cre-mediated) enlarged lateral ventricle, abnormalitie s in striatum, decreased neuronal density in hippocampu s increased repetitive behavior, decreased social interest and impairment s in patial memory decreased excitability and increased excitatory synaptic transmission in hippocampal pyramidal neurons. chromatin, nucleosome, cell cyle
Araujo et al.66, 2015 heterozygous knockout n.d. defects in neonatal ultrasonic vocalizations increased excitability of striatal SPNs striatal development
Li et al.67, 2015 in utero knockdown (in developing cortex) defective neuronal migration, defective Neurite development n.d. n.d. n.d.
Araujo et al.68, 2017 conditional knockout in forebrain pyramidal neurons (Emx.Cre-mediated) decreased hippocampal volume hyperactivity, decreased sociability, impaired hippocampal-based spatial learning decreased late-phase long-term potentiatio n (LTP) response neurogenesis, neural differantiation, synaptic transmission
Usui et al.69, 2017 conditional knockout in forebrain pyramidal neurons (Emx.Cre-mediated) reduced neocortical size and mispositioning of deep layer neurons impaired postnatal vocal communicatio n n.d. neurogenesi s and neuronal migration
RBFOX1 Gehman et al.77, 2011 brain-specific knockout (Nestin.Cre-mediated) normal gross morphology seizures hyperexcitbility in hippocampal neurons SNARE complex, neurotransmitter genes, ion channels
Hamada et al.79, 2015 in utero knockdown (in developing cortex) defects in neuronal migration, neuronal placement, and dendritic arbor formation n.d. n.d. n.d.

SPN: spiny projection neuron, Nac: nucleus accumbens, n.d: not determined