Frameshift mutation in Shank3 protein in mice to detect ASD

Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model

 

 

 

 

Abstract

Background

Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters.

Link to the publication : https://link.springer.com/article/10.1186/s13229-020-00412-8