Gene Summary

Name:
holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)
Synonyms:
410I21.SP6,  D16Jhu34

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Hlcsem1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Hlcsem1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Hlcs 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 Hlcs by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Holocarboxylase Synthetase Deficiency
OMIM:253270
Holocarboxylase Synthetase Deficiency
ORPHA:79242

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Holocarboxylase Synthetase Deficiency
OMIM:253270
Holocarboxylase Synthetase Deficiency
ORPHA:79242

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 Hlcs

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 Hlcs.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Hlcsem1(IMPC)J 32376682

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MGI Allele Allele Type Produced
Hlcsem1(IMPC)J Exon Deletion Mice

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