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.
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 Pnkd by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Paroxysmal Nonkinesigenic Dyskinesia 1 | OMIM:118800 | ||
Paroxysmal Non-Kinesigenic Dyskinesia | ORPHA:98810 |
The table below shows human diseases predicted to be associated to Pnkd by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Pheochromocytoma/Paraganglioma Syndrome 6 | Elevated circulating catecholamine level, Paraganglioma | OMIM:618464 | |
Pheochromocytoma/Paraganglioma Syndrome 3 | Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... | OMIM:605373 | |
Pheochromocytoma/Paraganglioma Syndrome 1 | Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... | OMIM:168000 | |
Pure Autonomic Failure | Abnormality of circulating catecholamine level | ORPHA:441 | |
Von Hippel-Lindau Disease | Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... | ORPHA:892 | |
Paroxysmal Nonkinesigenic Dyskinesia 1 | OMIM:118800 | ||
Paroxysmal Non-Kinesigenic Dyskinesia | ORPHA:98810 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Pnkdem2(IMPC)H | Exon Deletion | Mice |
Pnkdtm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Pnkdtm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Pnkdem1(IMPC)H | Exon Deletion | Mice |
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