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Gene: Sorcs2 MGI:1932289

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Gene Summary

Name:
sortilin-related VPS10 domain containing receptor 2
Synonyms:
VPS10 domain receptor protein

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
decreased locomotor activity Sorcs2em1(IMPC)Marc HOM Early adult 2.51×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sorcs2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sorcs2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Neuroblastoma
Elevated circulating catecholamine level, Antalgic gait, Ataxia ORPHA:635
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sorcs2

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 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

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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
Sorcs2em1(IMPC)Marc Deletion Mice
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

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