Ontologies and vocabularies supporting data integration: emphasis on mouse phenotypes and disease model Control C3H/HeJ Homozygous Fasl gld /Fasl gld The mouse generalized lymphoproliferative disease (gld) mutation in the FAS ligand (TNF superfamily, member 6) gene. These mice model human Autoimmune Lymphoproliferative Syndrome; ALPS, type IB Janan T. Eppig PATO Meeting, Dec. 2006
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Ontologies and vocabularies supporting data integration: emphasis on mouse phenotypes and disease model Control C3H/HeJ Homozygous Fasl gld /Fasl gld The.
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Ontologies and vocabularies supporting data integration:
emphasis on mouse phenotypes and disease model
ControlC3H/HeJ
HomozygousFaslgld/Faslgld
The mouse generalized lymphoproliferative disease (gld) mutation in the FAS ligand (TNF superfamily, member 6) gene.
These mice model human Autoimmune Lymphoproliferative Syndrome; ALPS, type IB
Janan T. EppigPATO Meeting, Dec. 2006
The genetic tools for mouse provide an ideal platform for
experimentation:
• genetic engineering
techniques to
specifically manipulate
the genome• sequenced genome
• Inbred strains
• high resolution maps
• Mammal : small, easy to breed and maintain, short lifespan• Similar to human genetically & physiologically
• human
disease model
• ES cell lines
• short domed skull
• short-limbed dwarfism
• malocclusion
• bulging abdomen as adults
• respiratory problems
• shorted lifespan
Achondroplasia
Homozygous achondroplasia mouse mutant and control
…facilitating the use of the mouse as a model for human biology by providing integrated access to data on the genetics, genomics, and biology of the laboratory mouse.
www.informatics.jax.org
…make phenotype and disease model data robust and
accessible to researchers and computational biologists
• semantically consistent search methods
• integrated access to all phenotypic variation sources (single-gene and genomic mutations, QTLs, strains)
• ability to query across sequence, orthology, expression, function, phenotype, disease
• data on human disease correlation
• access to mouse models from various approaches- Genetic- Phenotypic