Gene: Pex14 MGI:1927868
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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.
Human diseases caused by Pex14 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 Pex14 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neonatal Adrenoleukodystrophy | Cataract | ORPHA:44 | |
Infantile Refsum Disease | Cataract | ORPHA:772 | |
Zellweger Syndrome | Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity | ORPHA:912 | |
Peroxisome Biogenesis Disorder 13A (Zellweger) | Posterior embryotoxon | OMIM:614887 |
The table below shows human diseases predicted to be associated to Pex14 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neonatal Adrenoleukodystrophy | Cataract | ORPHA:44 | |
Infantile Refsum Disease | Cataract | ORPHA:772 | |
Zellweger Syndrome | Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity | ORPHA:912 | |
Peroxisome Biogenesis Disorder 13A (Zellweger) | Posterior embryotoxon | OMIM:614887 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Pex14tm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Pex14em1(IMPC)Bay | Exon Deletion | Mice |
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