Autism Mouse Models

Core behavioral assays include three chamber social interaction test (social approach), reciprocal social interaction, ultrasonic vocalizations, repetitive behavior measures (self grooming, marble burying), and cognitive flexibility tests (reversal learning). Multiple complementary assays strengthen phenotypic characterization.

Many autism genes are essential for development, making conventional knockout lethal or causing severe developmental phenotypes that mask adult function. Conditional knockout with brain specific or forebrain specific Cre drivers (Nestin-Cre, CamKII-Cre, Emx1-Cre) enables study of gene function in specific brain regions without developmental lethality.

Mouse models capture core behavioral domains including social deficits, repetitive behaviors, and sensory abnormalities, but cannot replicate complex human symptoms like language impairments. Models provide mechanistic insights into neurodevelopmental processes and enable testing of therapeutic interventions.

For haploinsufficiency disorders (where loss of one allele causes disease), conventional heterozygous knockout often models the human condition. For dominant negative mutations, point mutation knockin models the specific patient variant. Pre-germline characterization confirms allele architecture and expression levels before mouse generation. (/request-quote)