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Understanding Phenotypic Allele Summary Pages

This document answers the following questions about the allele summary page:

See also:

When does an allele summary appear?

The Phenotypic Alleles Query Results -- Summary appears when a query on the Phenotypes, Alleles, and Disease Models Query Form returns any alleles.

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What should show up on this page?

A search for alleles results in a summary listing of any "hits" with links to detail records. The Query Summary at the top of the Phenotypic Alleles summary reiterates the search parameters that produced the report and contains:


You'll find a line of text near the top that reports the number of unique alleles matching your query, and, in parentheses, the number of genes or markers represented by those alleles. For example, if a query returns three different alleles of the same marker, this line would read
3 matching Alleles (1 Gene/Marker represented)

  • Table columns summarize information about the alleles matching your query. Your sort option (from the query form) determines the presentation order. The results appear in some or all of the following fields (depending on your query form choices).
  • FieldDescription
    Allele Symbol
    Gene; Allele Name
    [Camera icon]
    Official symbol for the allele, linked to its Phenotypic Allele Detail page.
    Name for the allele.
    If a camera icon appears, click it to view any associated image(s).
    ChrChromosome of the marker that the allele is associated with.
    Synonyms Any synonyms for the allele.
    Category Specific allele type (e.g., knockout, targeted)
    Observed Phenotypes in Mouse
    Affected Anatomical SystemsHigh level terms chosen from the Phenotype Selection List pop-up (when you click Anatomical Systems Affected by Phenotypes on the Phenotypes, Alleles, and Disease Models Query Form).
    Similar Human DiseasesHuman disease terms and IDs found by the query, based on your entry in the Phenotype/Disease box on the query form.
    Allelic Composition
    (Genetic Background)
    Allele pairs that contribute to the genotype and the mouse strain background. Each allele is linked to its corresponding Phenotypic Allele Detail page.
    Beneath the allele pairs, in parentheses, the strain involved in the genetic background appears; e.g., (involves: 129/Sv * C57BL/6) or (not specified).
    InvolvesIndicates that the strains listed (separated by asterisks) contributed to the genetic background of the specimen; additional unspecified strains may also be part of the specimen's genetic background.
    EitherIndicates that more than one genetic background appears in a reference, but the background of the specimen is unspecified.

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    How do I interpret an allele summary page?

    After reviewing the summary information, you may want to run your query again, and change the...

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    Why do some alleles have observed phenotypes and genotypes and some do not?

    The vocabulary is annotated at the genotype level. If an allele either does not yet have a genotype or has a genotype with no annotations, the Observed Phenotypes in Mouse and Allelic Composition fields are blank. However, if your search terms match a combination of genotype and text in the Additional Information field, the query returns that data.

    For example, on the Phenotypes, Alleles, and Disease Models Query Form:

    In the Phenotype/Disease box, you enter ...The query returns...Why?
    superimposed aqueductal stenosisOne allele (oh) with no observed effects or allelic composition (genetic background).The match is in the Additional Information section.
    aqueductal stenosisTwo alleles (hhy and oh). Hhy returns data in the Observed Phenotypes in Mouse and Allelic Composition (Genetic Background) columns.Hhy is annotated to the term.

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    What if my query returns no results?

    See What if my query returns no results? in Using the Phenotypes, Alleles, and Disease Models Query Form.

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    08/07/2008
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