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
![Page 1: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/1.jpg)
Module 3: The Human-Mouse: Disease Connection in MGI
![Page 2: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/2.jpg)
Clinical genetic research and translation tool
![Page 3: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/3.jpg)
![Page 4: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/4.jpg)
Options for beginning a search:
Gja8Mapk10Rsph9Il20raJak3Frg1
![Page 5: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/5.jpg)
Visual display of associated phenotype and disease results
Mammalian (mouse) Phenotypes
Human disease(OMIM)
![Page 6: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/6.jpg)
Click to drill-down for more precise MP and allele IDs
![Page 7: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/7.jpg)
Click right side to view disease
![Page 8: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/8.jpg)
Visual display of associated phenotype and disease results
![Page 9: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/9.jpg)
Other tabs for Genes & Diseases lists (downloadable)
![Page 10: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/10.jpg)
Genes tab: downloadable, find references and mouse models
![Page 11: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/11.jpg)
Diseases tab: downloadable, find all gene associations in human and mouse
![Page 12: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/12.jpg)
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
![Page 13: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/13.jpg)
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”
![Page 14: The Human-Mouse: Disease Connection in Mouse Genome Informatics (MGI)](https://reader036.vdocuments.us/reader036/viewer/2022062706/557cbd73d8b42ab37c8b5146/html5/thumbnails/14.jpg)
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