Model Systems Evidence

Model systems evidence shows that a non-human model organism or a cell culture model with a disrupted copy of the gene has a phenotype consistent with the human disease state.

Curation of model systems evidence is based on whether the experiments were conducted with a non-human model organism or a cell culture model; select the appropriate option from the pull-down menu:

The curation interface for both options has a number of required fields, shown with an asterisk next to the field. For both, the required fields are:

• Experiment name is a free-text field; please choose a descriptive name for the experiment.

• Description of gene alteration is a free-text field that enables you to describe how the endogenous gene was altered in the experiment.

• Phenotype(s) observed in model system requires an entry in either the Human Phenotype Ontology (HPO)/Mammalian Phenotype Ontology (MP) ID or the free text field.

• Human phenotype(s) requires an entry in the Human Phenotype Ontology (HPO) ID or the free text field.

• Explanation of how model system phenotype is similar to phenotype observed in humans is a free-text field.

For the "Non-human model organism" option, the additional required field is:

• Non-human model organism presents a dropdown menu of non-human model organism options. New organisms can be added upon request; please email us at clingen-helpdesk@lists.stanford.edu.

For the "Cell culture model" option, the additional required field is:

• Cell culture model type/line requires an entry in either the Experimental Factor Ontology (EFO)/Cell Ontology (CL) ID or the free text field.

Links to the Human Phenotype Ontology (HPO), Cell Ontology (CL) and the Experimental Factor Ontology (EFO) are provided to aid in searching for the correct ID. A link to the Mammalian Phenotype Ontology (MP) is here.

Finally, select whether the experimental evidence should be scored, brought up for review by the GCEP, or contradicts the gene-disease association.