the human-mouse: disease connection in mouse genome informatics (mgi)
DESCRIPTION
Slides to accompany video: http://youtu.be/vOtU51x9sLc This presentation provides a brief introduction to the clinical research and translational tool, the Human-Mouse: Disease Connection created by the Mouse Genome Informatics (MGI) database, and found online at www.informatics.jax.org. This tool and slides demonstrate how to straightforwardly make connections between genes and phenotypes, or genes and diseases using the wealth of phenotypic data generated by mouse researchers, or human clinical reports as curated by OMIM.TRANSCRIPT
Module 3: The Human-Mouse: Disease Connection in MGI
Clinical genetic research and translation tool
Options for beginning a search:
Gja8Mapk10Rsph9Il20raJak3Frg1
Visual display of associated phenotype and disease results
Mammalian (mouse) Phenotypes
Human disease(OMIM)
Click to drill-down for more precise MP and allele IDs
Click right side to view disease
Visual display of associated phenotype and disease results
Other tabs for Genes & Diseases lists (downloadable)
Genes tab: downloadable, find references and mouse models
Diseases tab: downloadable, find all gene associations in human and mouse
Search terms can be combined
Chr1:150000000-250000000
.
type “cleft palate” (matches whole) or
type cleft palate (matches as two terms)
or selectcleft palate Mammalian phenotype
or selectCleft Palate; CP [Cleft palate isolated, CPI] OMIM
Combined search results for region AND annotation
at least one mouse homolog genotype contains “cleft palate” (or child term) as an MP annotation
same MP genotype is a disease model, or human disease name/synonym contains “cleft palate”
Summary
The Human-Mouse: Disease connection allows rapid accession and association of gene-phenotype or gene-disease information
Allows clinical researchers with human data to perform functional or phenotypic annotation to a gene list
Straightforward discovery of mouse models
contact [email protected] with any questions