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Significant knockout phenotypes IMPC records for a human gene

Source: R/impc.R
impc_gene_phenotypes.Rd

Resolves the mouse ortholog first, then queries the phenotype core by its MGI accession. See the note in the file header on why the second query cannot be made from the human symbol.

Usage

impc_gene_phenotypes(symbol, ...)

Arguments

symbol

A human gene symbol, for example "NF1".

...

Passed to biohttp::get_json(), for example throttle.

Value

A biohttp envelope whose data is a list of mgi, marker_symbol, phenotypes (the tibble from impc_parse_phenotypes()), and source_url.

References

Groza et al. (2023). The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease. Nucleic Acids Research 51(D1), D1038-D1045. doi:10.1093/nar/gkac972

Service documentation: https://www.mousephenotype.org/

Examples

# \donttest{
biohttp::body_or_null(impc_gene_phenotypes("NF1"))$phenotypes
#> # A tibble: 2 × 6
#>   mp_id      mp_name                    allele allele_symbol zygosity source_url
#>   <chr>      <chr>                      <chr>  <chr>         <chr>    <chr>     
#> 1 MP:0011100 preweaning lethality, com… MGI:4… Nf1<tm1a(KOM… homozyg… https://w…
#> 2 MPATH:212  inflammation               MGI:4… Nf1<tm1a(KOM… heteroz… https://w…
# }