Skip to main content

IMPC mouse knockout model phenotypes added

Image
By

We have added phenotype data from the International Mouse Phenotyping Consortium, who's goal is to discover functional insight for every mouse gene by generating and systematically phenotyping knockout mouse strains. This initially includes 890 mice affecting 763 genes with 222 unique phenotypes. IMPC data will be updated approximately monthly.

IMPC data is presently accessible in the Monarch portal via Mouse gene pages (for example, Stk16, Gpr107, or Gpr22), or via phenotypic similarity comparison on disease pages (such as Sebastian Syndrome or Susceptibility to Malignant Hyperthermia 3).

You can read more about our data sources here.

Labels:

Popular posts from this blog

How to annotate a patient's phenotypic profile

By
How to annotate a patient's phenotypic profile using PhenoTips and the Human Phenotype Ontology Purpose We have observed that performance of computational search algorithms within and across species improves if a comprehensive list of phenotypic features is recorded. It is helpful if the person annotating thinks of the set of annotations as a query against all known phenotype profiles. Therefore, the set of phenotypes chosen for the annotation must be as specific as possible, and represent the most salient and important observable phenotypes. Towards this end, Monarch has been asked to provide guidance on how to create a quality patient profile using the Human Phenotype Ontology (HPO). Below we detail our annotation guidelines for use in the PhenoTips application, our partner organization.  The guidelines can also be considered more generically so as to be applicable to any annotation effort using HPO or even using other phenotype ontologies.  The annotations should b...
Read more

Finally, a medical terminology that patients, doctors, and machines can all understand.

By
By Nicole Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Chris Mungall, Peter Robinson, Sebastian Köhler, Melissa Haendel For many patients with rare and undiagnosed diseases, getting an accurate diagnosis, or even finding the appropriate experts is a long and winding road. To accelerate and facilitate this process, we developed a medical vocabulary (“HPO”) which is comprised of 12,000 terms that doctors can use to codify the precise and distinct observations about patients and their conditions. The HPO is structured in a way that enables machines to intelligently compare a patient’s profile with what scientists worldwide have already uncovered about diseases and their genetic causes. Until now, most of the HPO labels and synonyms were composed of clinical terms unfamiliar to patients. For example, a patient may know they are ‘color-blind’, but may not be familiar with the clinical term ‘Dyschromatopsia’. This is why we developed a layer of 5,000 corresponding terms tha...
Read more