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.
The table below shows human diseases predicted to be associated to Pnkd by phenotypic similarity.
||Elevated circulating catecholamine level, Paraganglioma||OMIM:618464|
||Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin...||OMIM:168000|
||Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level...||OMIM:605373|
|Pure Autonomic Failure||
||Abnormality of circulating catecholamine level||ORPHA:441|
|Von Hippel-Lindau Disease||
||Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Elevated circulating catecho...||ORPHA:892|
|Paroxysmal Nonkinesigenic Dyskinesia 1||
|Paroxysmal Non-Kinesigenic Dyskinesia||
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
This service may be affected by the Covid-19 pandemic. See how
|MGI Allele||Allele Type||Produced|
|Pnkdtm1a(KOMP)Wtsi||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors, ES Cells|