Table 1.
Patient Phenotype | Behavioral Test | Cohort | Age (weeks) |
---|---|---|---|
Developmental delay | developmental milestones | 1 | 0–2 |
Language impairment | ultrasonic vocalization | 2 | 0–1.5 |
Intellectual disability | conditioned fear | 3 | 13 |
novel object recognition | 4 | 27 | |
Motor deficits | rotarod | 3 | 11 |
Schizophrenia | prepulse inhibition | 3 | 13 |
Autism (social interaction deficits) | three-chamber test | 3 | 12 |
partition test | 3 | 12 | |
nest building | 3 | 14 | |
Autism (repetitve behaviors) | self-grooming | 3 | 10 |
holeboard exploration | 3 | 10 | |
Hypotonia | grip strength | 4 | 25 |
Anxiety | elevated plus maze | 3 | 10 |
light-dark box exploration | 3 | 10 | |
Hyperactivity | open field activity | 3 | 10 |
Depression | forced swimming test | 3 | 12 |
Cohort 1: 21 WT, 27 HET, and 15 KO
Cohort 2: 16 WT, 29 HET, and 19 KO
Cohort 3: 14 WT (♂), 20 HET (♂), 14 KO (♂), 14 WT (♀), 20 HET (♀), and 16 KO (♀)
Cohort 4: 15 WT (♂), 18 HET (♂), 19 KO (♂), 18 WT (♀), 15 HET (♀), and 16 KO (♀)