Abstract
AutDB features a modular framework that aims at collating multifactorial risk factors associated with autism spectrum disorder (ASD). The animal model (AM) module of AutDB was first developed for mouse models of genes and CNVs associated with ASD (Kumar et al., 2011). Subsequently, environmentally induced rodent models were introduced to capture the full spectrum of risk-factors associated with ASD, along with idiopathic models represented by inbred strains. Using the data systematically annotated in AutDB, we depict the intricate trends in the research findings based on rodent models of ASD. We identify the top 30 most frequently studied phenotypes extracted from 911 genetic, 269 induced and 17 inbred rodent models of ASD extracted from 787 publications. As expected, many of these include animal model equivalents of the 'core' phenotypes associated with ASD, as well as several comorbid features of ASD including anxiety, seizures and motor-control deficits. Uniquely, AutDB curates rescue models where various treatment strategies were used in rodent ASD models to alleviate ASD-relevant phenotypes. We further examine ASD models based on 52 genes and 2 CNV loci to identify 24 pharmaceutical agents that were used in 2 or more paradigms for testing their efficacy. As a case study, we analyze various Shank3 mouse models providing a high-resolution view of the in vivo role of this highconfidence ASD gene. Together, this resource provides a snapshot of genetic and induced models of ASD within a shared annotation platform to examine the complex meshing of diverse ASD-associated risk-factors. Funding Statement: This research was funded by the Simons Foundation. Declaration of Interests: Authors declare no competing interests.
Highlights
Animal models have been pivotal in understanding the etiology of many human diseases and determining effective therapeutic interventions [1]
Rodent models for diseases caused by viral or bacterial infections including some types of cancer and acquired immune deficiency syndrome (AIDS) have led to an understanding of the fundamentals of the mammalian immune system leading to practical advances in healthcare management [3,4,5]
AutDB is a platform designed to be a specific resource where the Animal Model (AM) module focuses on the in-depth annotation of genetic and non-genetic ASD models, using multiple layers of standardized vocabulary encapsulated in the Phenobase
Summary
Animal models have been pivotal in understanding the etiology of many human diseases and determining effective therapeutic interventions [1]. Research using animal models has unearthed mechanistic underpinnings and identified therapeutic targets for neurological disorders arising due to dysfunction of specific cell types or brain regions, e.g., Parkinson’s disease [2]. The systematic annotation of autism-related data on a standardized platform has been an invaluable resource to researchers seeking to sort through confounding and groundbreaking findings. Towards this end, ASD-associated AutDB gene and copy number variant (CNV) datasets have been used widely by the research community to understand the genetic heterogeneity of ASD [10,11,12]
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