Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
increased circulating aspartate transaminase level | Polr1dem1(IMPC)J | HET | Early adult | 1.16×10-06 | ||
embryonic lethality prior to organogenesis | Polr1dem1(IMPC)J | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Polr1dem1(IMPC)J | HOM | Early adult | 0.00 |
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Polr1d by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Treacher-Collins Syndrome | ORPHA:861 | ||
Treacher Collins Syndrome 2 | OMIM:613717 |
The table below shows human diseases predicted to be associated to Polr1d by phenotypic similarity.
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Polr1d.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Loss of POLR1D results in embryonic lethality prior to blastocyst formation in mice. | Molecular reproduction and development (October 2020) | Polr1dem1(IMPC)J | 33022126 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Polr1dem1(IMPC)J | Exon Deletion | Mice |
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