How do I find mutations that cause a specific combination of phenotypes?
Overview
You can use the Phenotypes, Alleles and Disease Models Query Form to find alleles of a gene, alleles associated with a specific phenotype, or alleles created by a specific type of mutation.
Accessing the Phenotypes, Alleles and Disease Models Query Form
On most MGI pages, you can access the Phenotypes, Alleles and Disease Models Query Form from the Search menu as shown in the image at right.

For this tutorial, open the Phenotypes, Alleles and Disease Models Query Form in a new window. Scroll down this page for further instructions.

Search Menu PAD QF Screen Shot

Example: Finding alleles associated with both hyperglycemia AND glucosuria
  1. Type hyperglycemia AND glucosuria in the Phenotype/Disease text box.

  2. Boolean keywords such as "AND", "OR", and "AND NOT" (case sensitive) are supported to allow precise custom searching, or use structured vocabulary from the Mammalian Phenotype (MP) ontology

  3. Searches can be restricted to a defined genetic region if desired by entering coordinates into the section below, or limited to certain allele categories or collections.

  4. Click Search.
PAD QF Screen Shot
  1. A list of alleles that have been annotated to both phenotypes will be returned along with information about the type of allele (see "Category"), other affected systems and associated diseases where this allele is annotated as a model.

  2. Sort using the arrows in header rows.

  3. Click on an allele symbol in the first column of the search results to view greater detail about the selected allele, including descriptions of phenotypes, mouse genetic background and any associated diseases.
PAD Summary Screen Shot