Mice heterozygous for POU3F2 (Brn2+/- mice) were shown to display deficits in social behavior and increased repetitive behavior (marble burying) (Belinson et al., 2016). Small 6q16.1 deletions encompassing POU3F2 segregated with a disorder of variable developmental delay, intellectual disability, behavioral problems, and susceptibility to obesity and hyperphagia in six families (Kasher et al., 2016).
Molecular Function
This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Prenatal -catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.
Pou3f2 null embryos have improper cortical lamination and die soon after birth, whereas heterozygous mice display changes to cortical thickness as well, survive to adulthood and display impaired social behavior.
References
Type
Title
Author, Year
Primary
Prenatal -catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
A neomycin cassette replaced the entire coding region of Pou3f2, mice were bred to C57BL/6 background and homozygosity.
Allele Type: Targeted(knockout)
Strain of Origin: 129S4/SvJae
Genetic Background: C57BL/6
ES Cell Line: J1
Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
A neomycin cassette replaced the entire coding region of Pou3f2, mice were bred to C57BL/6 background.
Allele Type: Targeted(knockout)
Strain of Origin: 129S4/SvJae
Genetic Background: C57BL/6
ES Cell Line: J1
Mutant ES Cell Line: Model Source:
Description: Increased number of neurons expressing tbr2 and sox2 and both (tbr2 + sox2) are seen in pou3f2 null embryonic brains indicating an imbalance in neuronal differntiation and assignment to different cortical layers
Exp Paradigm: NA
Description: Pou3f2 null mice had significantly thicker cortical walls that wild type embryos, with significantly thicker ventricular zone and cortical plate
Exp Paradigm: NA
Description: Pou3f2 het mice have increased cortical thickness, with increase in ventricular zone and cortical plate thickness compared to wt. authors note an intermediate phenotype, with thickness increase less than null, but more than wt animals
Exp Paradigm: NA
Description: Pou3f2 het mice show reduced preference to social target mouse compared to object in the three chamber social approach test
Exp Paradigm: NA
