Mouse Models for Heart, Lung and Blood Disease

Jackson Laboratory, Bar Harbor ME

Investigators

Linked publications & trials

Abstract

The goal of The Jackson Laboratory (TJL) Program for Genomic Applications (JAX PGA) is to provide the resources and tools required to link genetic variation to biological function and dysfunction. To meet this goal, we established at TJL a Center for Mouse Models of Heart, Lung, Blood, and Sleep (HLBS) Disorders designed to enable researchers to link both single-gene mutations and quantitative trait loci (QTL) to gene function and disease and to dissect the genetic variation underlying complex cardiovascular, lung, hematopoietic, and sleep phenotypes. To accomplish this goal, we are (1) generating new single-gene, disease-causing mutations in C57BL/6J (B6) mice using chemical mutagenesis combined with comprehensive phenotypic screening to detect deviants in HLBS-related phenotypes (hypertension, blood formation, lipidopathies, cardiac function, lung function, sleep function); (2) characterizing an extensive set of inbred mouse strains for existing variation in heart, lung, blood, and sleep phenotypes; (3) carrying out specific crosses to locate the QTL affecting HLBS-related phenotypic traits; (4) developing analysis methods and software tools to facilitate QTL identification, refinement of QTL intervals, and identification of candidate genes in silico; (5) populating and enhancing and enhancing a web-accessible public database for JAX PGA strain characteristics data (Mouse Phenome Database); (6) developing and enhancing MutaJAX, a scalable information system designed to track animals, workflow, and phenotyping data; (7) providing training and educational opportunities and a Visiting Investigator Program designed to educate researchers to effectively use the JAX PGA resources; and (8) directly demonstrating the utility of JAX PGA resources in QTL gene identification. All JAX PGA resources are available without restriction via our PGA home website, including phenotyping and mutagenesis protocols, strain characterizing data, QTL localization, software tools for QTL analysis and gene identification, and new animal models. New mouse models will be cryo-preserved in order to maintain their availability. Provision are likewise to maintain all JAX PGA resources beyond the PGA program.