Table 3.
Most relevant ASD mouse models induced by targeting ASD-associated genes.
| Mouse model | Associated syndrome | Targeted mutant gene (Chromosome) | Observed behavioral symptoms | References |
|---|---|---|---|---|
| Fmr1 KO mice | Fragile X syndrome | FMR1 (Xq27) | Social interaction deficits, hyperactivity, cognitive impairments. | Willem Verhoeven, 2011; Bhattacharya et al., 2012; Ronesi et al., 2012; Hulbert and Jiang, 2016; Hu et al., 2017 |
| Cntnap2−/− mice | Cortical dysplasia-focal epilepsy syndrome | CNTNAP2 (7q35) | Social interactions impairments, stereotypic behavior, sensory sensitivity, elevated motor activity, nest-building impairments. Normal olfactory discrimination and seizures. | Cook and Scherer, 2008; Scott-Van Zeeland et al., 2010; LaSalle et al., 2015; Piochon et al., 2015 |
| Tsc1+/− mice Tsc2+/− mice | Tuberous Sclerosis | TSC1 (9q34) TSC2 (16p13) | Social interactions deficits, normal olfaction. No difference in motor and sensory functions. Repetitive/restricted behavior or interest. | Chao et al., 2010; Willem Verhoeven, 2011; Ergaz et al., 2016 |
| Viaat-Mecp2 conditional mutant mice | Rett syndrome | MeCP2 (Xq28) | Repetitive and stereotypic/restricted behaviors, abnormal gait and reduced anxiety, irregular breathing, reduced pain and normal olfactory discrimination. | Amir et al., 1999; Chao et al., 2010; Katz et al., 2012; Kron et al., 2012; Samaco et al., 2013 |
| Shank3B mutant mice Shank3A mutant mice Shank3(e4-9) mutant | Phelan-McDermid syndrome | SHANK3 (22q13) | Restricted interest but no repetitive behavior, social interactions, learning, sensory, cognitive and motor deficits. | Giza et al., 2010; Phelan and McDermid, 2012; Ergaz et al., 2016 |
| Ube3A−/− mice (transgenic mice with triple dosage of Ube3A) | Angelman syndrome | UBE3A (15q11) | Impaired social interactions, repetitive behavior and restricted interest. | Kishino et al., 1997; Matsuura et al., 1997; Buiting et al., 2016 |
| TS2 mice | Timothy syndrome | CACNA1C (16p13) | Social interactions impairments, repetitive/stereotypic behaviors, and increased fear conditioning. | Chao et al., 2010; Willem Verhoeven, 2011; Ergaz et al., 2016 |
| PTEN mutant mice | Not defined | PTEN (10) | Social interactions deficits, restricted interest, sensory sensitivity, elevated anxiety, normal motor activity and seizures. | Cook and Scherer, 2008; LaSalle et al., 2015; Piochon et al., 2015 |