Table 6.
Mouse models of ASD and observed phenotypes. The main genes and corresponding phenotypes observed in ASD mouse models are presented.
| Genes | Phenotypes | References |
|---|---|---|
| Actin like 6B (Actl6b) | Social and memory impairments, repetitive behaviours, hyperactivity | [119] |
| Activity dependent neuroprotector homeobox (Adpn) | Increased lethality, deficits in social memory, developmental alterations | [120,121,122] |
| Autophagy and beclin 1 regulator 1 (Ambra1) | Deficits in communication and social interactions, increased repetitive behaviours, reduced ultrasound communication in adults and pups, behaviour differences in male and female | [123] |
| Ankyrin repeat and sterile alpha motif domain containing 1B (Anks1b) | Social deficits, hyperactivity, and sensorimotor dysfunction | [124] |
| Rho GTPase activating protein 32 (Arhgap32) | Reduction in γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission | [125] |
| Rho guanine nucleotide exchange factor 10 (Arhgef10) | Impaired social interaction, hyperactivity, and decreased depression-like and anxiety-like behaviour | [126] |
| AT-rich interaction domain 1B (Arid1b) | Social behaviour impairment, altered vocalization, anxiety-like behaviour, neuroanatomical abnormalities | [127,128] |
| ASH1 like histone lysine methyltransferase (Ash1l) | Delayed eye development, increased lethality, infertility, dysfunction in immune response | [129,130] |
| ATPase phospholipid transporting 8A1 (Atp8a1) | Deficits in social behaviours | [131] |
| Ataxin1 (Atxn1) | Hyperactivity, impaired learning and memory, abnormal maturation and maintenance of upper-layer cortical neurons | [132] |
| Arginine vasopressin receptor 1B (Avpr1b) | Impaired social recognition, reduced pup ultrasonic vocalization | [133,134] |
| Cell cycle associated protein 1 (Caprin1) | Reduced sociality in a home cage and weak preference for social novelty | [135] |
| Coiled-coil and C2 domain containing 1A (Cc2d1a) | Reduced sociability, hyperactivity, anxiety, and excessive grooming | [135] |
| Chromodomain helicase DNA binding protein 2 (Chd2) | Developmental delay and increased mortality, decreased performance in object recognition test, reduced spatial working memory | [136,137] |
| Chromodomain helicase DNA binding protein 8 (Chd8) | Deficits in brain development, increased anxiety and repetitive behaviours, alteration in memory | [138,139,140,141,142] |
| Capicua transcriptional repressor (Cic) | Alteration in cortical and hippocampal morphology, reduced socialization | [143] |
| Contactin associated protein 2 (Cntnap2) | Delayed development, increased locomotor activity, impaired social interaction, and nest-building behaviours, increased epileptic behaviours | [144,145,146] |
| DEAD-box helicase 3 X-linked (Ddx3x) | Hyperactivity, anxiety-like behaviours, cognitive impairments in contextual fear memory but not novel object recognition memory, and motor deficits | [143] |
| Disco interacting protein 2 homolog A (Dip2a) | Excessive repetitive behaviours and defects in social novelty | [147] |
| DLG associated protein 1 (Dlgap1) | Post-synaptic density disruption and reduced sociability | [148] |
| Engrailed homeobox 2 (En2) | Reduced social interaction | [149,150] |
| Fibroblast growth factor 17 (Fgf17) | Reduced pup ultrasonic vocalization, lack of preference for social novelty, reduced reciprocal social interaction | [151] |
| Fragile X messenger ribonucleoprotein 1 (Fmr1) | Increased social approach, reduced repetitive behaviours, reduced anxiety, and normal locomotor activity | [108,152,153,154] |
| Forkhead box P2 (Foxp2) | Reduced pup ultrasonic vocalization, abnormality in Purkinje cells, severe motor impairments, premature death | [155,156,157] |
| Gamma-aminobutyric acid type A receptor subunit beta3 (Gabrb3) | Altered brain morphology, decreased sociability, reduced interneurons, increased seizures and anxiety, lack of preference for social novelty and impaired nest-building behaviour | [158,159,160,161] |
| Integrin subunit beta 3 (Itgb3) | Lack of preference for social novelty, and increased grooming behaviours | [162] |
| Lysine methyltransferase 5B (Kmt5b) | Deficits in neonatal reflexes and sociability, repetitive grooming, changes in thermal pain sensing, decreased depression and anxiety, increased fear, slower extinction learning, and lower body weight, length, and brain size | [163] |
| Methyl-CpG binding protein 2 (Mecp2) | Increased social avoidance, abnormal locomotor coordination, deficits in sociability and cognition | [116,164,165,166,167] |
| MET proto-oncogene, receptor tyrosine kinase (Met) | Deficits in cognitive function, hippocampal dysfunction | [168] |
| MicroRNA 137 (Mir137) | Dysregulated synaptic plasticity, repetitive behaviour, and impaired learning and social behaviour | [169] |
| Neuronal growth regulator 1 (Negr1) | Reversal learning deficits in the Morris water maze and increased susceptibility to pentylenetetrazol (PTZ)-induced seizures | [170] |
| Neuronal differentiation 2 (Neurod2) | Social interaction deficits, stereotypies, hyperactivity, occasionally spontaneous seizures | [171] |
| Neurite extension and migration factor (Nexmif) | Reduced sociability and communication, repetitive grooming behaviours, and deficits in learning and memory | [172] |
| Neuroligin 1 (Nlgn1) | Increased repetitive self-grooming, reduced pup ultrasonic vocalization, sociability, and reciprocal social interaction | [173,174,175,176] |
| Oxytocin receptor (Oxtr) | Impaired social behaviours, reduced pup ultrasonic vocalization | [177,178,179] |
| Protocadherin 19 (Pcdh19) | impaired behaviours including activity defects under stress conditions | [180] |
| Pogo transposable element derived with ZNF domain (Pogz) | Impaired social interaction | [181] |
| Phosphatase and tensin homolog (Pten) | High lethality, alteration in brain morphology, increased brain cells apoptosis, decreased Purkinje cells number, altered coordination and social memory and reduced sociability | [63,182,183,184,185] |
| RAB39B, member RAS oncogene family (Rab39b) | Cortical neurogenesis impairment and macrocephaly | [186] |
| Reelin (Reln) | Deficits in brain development, impaired coordination, and abnormal metabolism of neurotransmitters | [187,188] |
| Bifunctional polyamine/amino acid permease SAM3 (Sam3) | Impaired responses to social novelty, defects in social communication, and increased repetitive behaviour | [189] |
| Sodium voltage-gated channel alpha subunit 2 (Scn2a) | Increased cells apoptosis, seizures, hyperactivity, increased anxiety, and rearing | [190,191] |
| SUMO specific peptidase 1 (Senp1) | Social deficits and repetitive behaviours but normal learning and memory ability | [192] |
| SET domain containing 5 (Setd5) | Impairments in cognitive tasks, enhanced long-term potentiation, delayed ontogenetic profile of ultrasonic vocalization, behavioural inflexibility | [193] |
| SH3 and multiple ankyrin repeat domains 2 (Shank2) | Increased anxiety, hyperactivity, and repetitive behaviours, reduced social interaction and decreased social memory | [194,195,196] |
| SH3 and multiple ankyrin repeat domains 3 (Shank3) | Learning and sensory deficits, and impaired locomotor activity | [197] |
| TAO kinase 2 (Taok2) | Deficits in brain development, impaired memory, deficits in cortical layering, dendrite, and synapse formation, reduced excitatory neurotransmission and abnormalities in neural connectivity | [198] |
| T-box brain transcription factor 1 (Tbr1) | Increased anxiety and aggressiveness, reduced neural connections | [199,200] |
| Ubiquitin protein ligase E3A (Ube3a) | Low sociability, ultrasonic vocalization increased (pups) and decreased (adults) and impaired reversal learning | [201] |
| Urocortin 3 (Ucn3) | Abnormally low preference for novel conspecifics | [202] |
| UPF2 regulator of nonsense mediated mRNA decay (Upf2) | Impaired nonsense-mediated decay, memory deficits, abnormal long-term potentiation, increased social and communication deficits | [203] |
| UPF3B regulator of nonsense mediated mRNA decay (Upf3b) | Abnormal sleeping patterns, deficits in neural progenitors’ differentiation, impaired startle response | [204] |