Gene Summary

Name:
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2
Synonyms:
mHS

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Hmgcs2 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 Hmgcs2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
OMIM:605911
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
ORPHA:35701

The table below shows human diseases predicted to be associated to Hmgcs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
OMIM:605911
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
ORPHA:35701

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 Hmgcs2

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 Hmgcs2.

No publications found that use IMPC mice or data for Hmgcs2.

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MGI Allele Allele Type Produced
Hmgcs2tm44791(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hmgcs2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hmgcs2tm44791(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hmgcs2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hmgcs2em1(IMPC)Tcp Exon Deletion Mice

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