Table 1. Phenotypes detected in 16GsoT/T mice compared with those identified in published KO mutants, AUTS2 syndrome, and ASD human patients.
Phenotype | 16Gso T/T | Sox1 −/−a,b | Auts2−/−c | Auts2-/+d | Auts2-T1−/−e | Related phenotypes in AUTS2 or ASD patientsf |
---|---|---|---|---|---|---|
Small size, low postnatal growth | + | — | nr | + | + | Low birth weight, short stature |
Delayed righting | + | nr | . | + | nr | Developmental delay |
Learning and memory deficits | + | — | . | + | nr | Intellectual disability |
Cortical layering defects | — | — | + | - | nr | Intellectual disability |
Abnormal skull/nose length | + | — | nr | nr | nr | Dysmorphic features |
Freezing behavior, anxiety | + | + | . | nr | nr | Adverse response to novelty, anxiety |
Reduced exploratory activity | + | nr | . | + | nr | Intellectual disability |
Abnormal nesting | + | nr | . | nr | nr | Abnormal social behavior |
Repetitive grooming behaviors | + | — | . | nr | nr | Stereotypic behavior, obsessive compulsive behavior |
Seizures | + | + | . | nr | nr | Epilepsyf,g |
Abnormal Purkinje Cell differentiation | + | — | . | nr | nr | ASDh |
Abnormal Purkinje Cell dendrites | + | — | . | nr | nr | ASDh |
Purkinje Cell loss | + | — | . | nr | nr | ASDh |
Abnormal numbers and packing of hippocampal neurons | + | — | . | nr | nr | ASDh |
in each column denotes that the phenotype has been observed; - denotes that the phenotype was investigated but not detected; nr = not reported; . = not applicable (animals die around the time of birth).
Data taken from aMalas et al., 2003
Hori et al., 2016
Summarized from (Beunders et al. 2013) unless otherwise noted