Table 3.
Rai1 CNV is Sufficient to Cause Most of the Phenotypes of SMS and PTLS also in Mice
| Mouse model\Phenotype | Del | Rai1+/- | Dup | Dup/Rai1- | Tg Rai1 |
|---|---|---|---|---|---|
| Overt seizures | Present (20%) | Subtle | No present | No present | No present |
| EEG | Abnormal | Abnormal | Normal | ND | ND |
| Locomotor activity | Hypoactive | Abnormal | Hyperactive | Hyperactive | Hyperactive |
| Anxiety | Decreased | Abnormal | Increased | Normal | Increased |
| Learning and memory | Normal | Normal | Impaired | Normal | ND |
| Social novelty recognition | Abnormal | ND | Impaired | ND | Abnormal |
| Dominance like behavior | Decreased | ND | Increased | ND | Increased |
| Reference | [16, 44, 45] | [48-50] | [15, 16, 44, 45, 50] | [50] | [51, 52] |
Summary of the neurobehavioral phenotypes observed in existing mouse models for SMS and PTLS. Del and Rai1+/- mice carry one gene copy of Rai1, Dup model carries three copies, Tg Rai1 has several copies and Dup/Rai1- has two copies or Rai1 gene. (N/D: not determined).