Gene: Arhgap31 MGI:1333857
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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 |
---|---|---|---|---|---|---|
abnormal embryo size | Arhgap31em1(IMPC)Bay | HET | E18.5 | 0.00 | ||
hemorrhage | Arhgap31em1(IMPC)Bay | HOM | E15.5 | 0.00 | ||
decreased prepulse inhibition | Arhgap31em1(IMPC)Bay | HET | Early adult | 1.61×10-09 | ||
preweaning lethality, incomplete penetrance | Arhgap31em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
edema | Arhgap31em1(IMPC)Bay | HOM | E15.5 | 0.00 |
Human diseases caused by Arhgap31 mutations
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 Arhgap31 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Adams-Oliver Syndrome | Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosi... | ORPHA:974 | |
Adams-Oliver Syndrome 1 | Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis | OMIM:100300 |
The table below shows human diseases predicted to be associated to Arhgap31 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Arhgap31tm41948(L1L2_gt1) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Arhgap31em1(IMPC)Bay | Exon Deletion | Mice |
Arhgap31tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Arhgap31tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Arhgap31tm1(NCOM)Cmhd | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
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