Table 1.

Susceptible genes in neurodevelopmental diseases that are modeled in transgenic mice

Gene	Associated diseases	Morphological and functional phenotypes in corticostriatal circuits of transgenic mice carrying defective or variant alleles of neurodevelopmental disorder-risk genes	References
Drd4	ADHD	↓ corticostriatal glutamate release	Bonaventura et al. (2017)
Shank3b	ASDOCD	↑ dendritic arborizations↓ synaptogenesis/spinogenesis↑ precocious hyperactivity of corticostriatal inputs during development↓ corticostriatal synaptic transmission in adulthood	Peça et al. (2011) Peixoto et al. (2016)
Fmr1	ASD	↑ inhibitory neurotransmission in the striatum↓ corticostriatal plasticity (LTD)↓ corticostriatal connectivity	Centonze et al. (2008) Jung et al. (2012) Zerbi et al. (2018)
Foxp1	ASD	↑ excitability of iSPNs	Araujo et al. (2015)
elf4e	ASD	↑ spinogenesis in Layer II/III of medial prefrontal cortex↑ corticostriatal plasticity (LTD)	Santini et al. (2013)
Nlgn1	ASD	↓ NMDA-mediated synaptic transmission of dSPNs↓ mEPSCs in iSPNs	Blundell et al. (2010) Espinosa et al. (2015)
Nlgn3	ASD	↓ inhibitory synaptic transmission in dSPNs of the ventral striatum↓ corticostriatal plasticity (LTD)	Rothwell et al. (2014) Martella et al. (2018)
Tshz3	ASD	↑ corticostriatal LTP	Caubit et al. (2016)
Met	ASDSLD	↑ neuronal activity of corticostriatal pyramidal neurons in Layer Vb	Qiu et al. (2011)
Mef2c	ASDSLD	↑ synaptogenesis/spinogenesis in the striatum↑ mEPSCs in SPNs	Chen et al. (2016)
Cntnap2	ASDSLD	↓ number of striatal GABAergic interneurons	Peñagarikano et al. (2011)
Slitrk5	OCD	↓ BDNF-mediated neurite outgrowth of striatal neurons↑ neuronal activity of the orbitofrontal cortex↓ corticostriatal transmission↓ dendritic complexity of SPNs↓ GluR2, NR2B in the striatum	Song et al. (2015) Shmelkov et al. (2010)
Sapap3	OCD	↓ postsynaptic density thickness↑ NR1, NR2B and↑NR2A in the striatal PSD fraction↓ corticostriatal field EPSP↓ corticostriatal quantal EPSP in the iSPNs↓ corticostriatal feedforward inhibition of fast-spiking interneurons	Welch et al. (2007) Wan et al. (2014) Burguière et al. (2013)
Slc1a1	OCD	↓ neuronal activity in response to amphetamine in the dorsal striatum↓ NR2A and corticostriatal LTD in the dorsal striatum	Zike et al. (2017) Delgado-Acevedo et al. (2019)
ErbB4	Schizophrenia	↑ inhibitory synaptic transmission in the striatum↑ GABA_Aα1 in the striatum	Geng et al. (2017)
Zswim6	Schizophrenia	↓ neurite arborizations in the striatum↓ spinogenesis in the striatum	Tischfield et al. (2017)
Foxp2	SLD	↓ corticostriatal synaptic transmission↓ corticostriatal plasticity (LTD)↓ synaptogenesis/spinogenesis in the striatum↓ mEPSCs in SPNs	Groszer et al. (2008) Enard et al. (2009) Reimers-Kipping et al. (2011) Chen et al. (2016)

ADHD: attention-deficit hyperactivity disorder; ASD: autism spectrum disorder; BDNF: Brain-derived neurotrophic factor; dSPN: direct striatonigral pathway neuron; EPSC: excitatory postsynaptic current; EPSP: excitatory postsynaptic potential; GABA: γ-aminobutyric acid; GABA_Aalpha1: GABA_A receptor subunit alpha 1; GluR2: glutamate ionotropic receptor AMPA type subunit 2; iSPN: indirect striatopallidal pathway neuron; LTD: long-term depression; LTP: long-term potentiation; NR1: glutamate ionotropic receptor NMDA type subunit 1; NR2A: glutamate ionotropic receptor NMDA type subunit 2A; NR2B: glutamate ionotropic receptor NMDA type subunit 2B; mEPSC: miniature excitatory postsynaptic currents; OCD: obsessive-compulsive disorder; PSD: postsynaptic density; SLD: speech and language disorders; SPN: striatal projection neurons.