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
|