Abstract

The Mouse Phenome Database was originally conceived as a platform for the integration of phenotype data collected on a defined collection of 40 inbred mouse strains—the “phenome panel.” This model provided an impetus for community data sharing, and integration was readily achieved through the reproducible genotypes of the phenome panel strains. Advances in the development of mouse populations lead to an expanded role of the Mouse Phenome Database to encompass new strain panels and inbred strain crosses. The recent introduction of the Collaborative Cross and Diversity Outbred mice, which share an extensive pool of genetic variation from eight founder inbred strains, presents new opportunities and challenges for community data resources. A wide variety of molecular and clinical phenotypes are being collected across genotypes, tissues, ages, environmental exposures, interventions, and treatments. The Mouse Phenome Database provides a framework for retrieval, integration, analysis, and display of these data, enabling them to be evaluated in the context of existing data from standard inbred strains. Primary data in the Mouse Phenome Database are supported by extensive metadata on protocols and procedures. These are centrally curated to ensure accuracy and reproducibility and to provide data in consistent formats. The Mouse Phenome Database represents an established and growing community data resource for mouse phenotype data and encourages submissions from new mouse resources, enabling investigators to integrate existing data into their studies of the phenotypic consequences of genetic variation.

Highlights

  • Understanding the causes of variation in complex diseaserelated phenotypes, how these traits relate to one another, and which phenotypic outcomes most resemble human disease requires detailed characterization and integration of data across phenotyping domains

  • The Mouse Phenome Database was originally conceived as a platform for the integration of phenotype data collected on a defined collection of 40 inbred mouse strains—the ‘‘phenome panel.’’ This model provided an impetus for community data sharing, and integration was readily achieved through the reproducible genotypes of the phenome panel strains

  • The eight founder strains, highlighted in green, exhibit a wide range of genetic diversity for body weight with strain means ranging from 13 g (CAST/EiJ females) to 58.8 g (NZO/ HlLtJ males)

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Summary

Introduction

Understanding the causes of variation in complex diseaserelated phenotypes, how these traits relate to one another, and which phenotypic outcomes most resemble human disease requires detailed characterization and integration of data across phenotyping domains. New genetic reference populations have been developed including the Collaborative Cross (CC) inbred strains The shared genetic variation in mouse populations provides a basis for data integration and a means to discover the causal genetic variants for diseaserelated phenotypes. Our ability to relate this complete picture of genetic variation to phenotypic observations of individual mice enables identification and validation of the genetic basis of complex, disease-related traits, increasingly with single nucleotide resolution. Primary data access is crucial for three reasons: (1) integrative analysis to find consensus among diverse studies, (2) reanalysis in light of new developments, and (3) reproducibility. Recent advances in metaanalysis techniques have demonstrated the value of combining primary data across multiple mouse studies (Kang et al 2014; Bubier et al 2014)

The Mouse Phenome Database
Data resources for the CC and DO
Male progenitor
MPD visualization and analysis tools
Find strains that best fit your criteria
CC strains
DO mice
Number of J:DO animals
Findings
Future directions
Full Text
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