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 predicted to be associated to Sorcs2 by phenotypic similarity.
|Intellectual Developmental Disorder, X-Linked 110||
|Pheochromocytoma/Paraganglioma Syndrome 6||
||Elevated circulating catecholamine level, Paraganglioma||OMIM:618464|
|Pheochromocytoma/Paraganglioma Syndrome 1||
||Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...||OMIM:168000|
|Pheochromocytoma/Paraganglioma Syndrome 3||
||Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...||OMIM:605373|
|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|
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 Sorcs2.
There are 1 publication which use IMPC produced mice or data.
|Title||Journal||IMPC Allele||PubMed ID|
|SorCS2-mediated NR2A trafficking regulates motor deficits in Huntington's disease.||JCI insight (May 2017)||Sorcs2tm1a(EUCOMM)Hmgu||PMC5414556|
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.
|MGI Allele||Allele Type||Produced|
|Sorcs2tm1e(EUCOMM)Wtsi||Targeted, non-conditional allele||ES Cells|
|Sorcs2tm1a(EUCOMM)Hmgu||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors, ES Cells|
|Sorcs2tm1e(EUCOMM)Hmgu||Targeted, non-conditional allele||ES Cells|
|Sorcs2tm1a(EUCOMM)Wtsi||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors, ES Cells|