Gene: Poglut1 MGI:2444232
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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 |
---|---|---|---|---|---|---|
preweaning lethality, complete penetrance | Poglut1em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
embryonic lethality prior to organogenesis | Poglut1em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal retina outer nuclear layer morphology | Poglut1em1(IMPC)Bay | HET | Early adult | 1.19×10-06 |
Human diseases caused by Poglut1 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 Poglut1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Dowling-Degos Disease 4 | OMIM:615696 | ||
Dowling-Degos Disease | ORPHA:79145 | ||
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 | OMIM:617232 |
The table below shows human diseases predicted to be associated to Poglut1 by phenotypic similarity.
IMPC related publications
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 Poglut1.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2. | PLoS genetics (October 2015) | Poglut1tm1c(EUCOMM)Hmgu Poglut1tm1a(EUCOMM)Hmgu Poglut1tm1d(EUCOMM)Hmgu | PMC4619674 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Poglut1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Poglut1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Poglut1em1(IMPC)Bay | Exon Deletion | Mice |
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