Gene Summary

Name:
NADH:ubiquinone oxidoreductase core subunit S2
Synonyms:
N/A

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
abnormal embryo size Ndufs2em1(IMPC)Tcp HET E9.5 0.00
embryonic lethality prior to tooth bud stage Ndufs2em1(IMPC)Tcp HOM   E12.5 0.00
preweaning lethality, complete penetrance Ndufs2em1(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to organogenesis Ndufs2em1(IMPC)Tcp HOM   E9.5 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.

Phenotype associated images not available

Human diseases caused by Ndufs2 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 Ndufs2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Complex I Deficiency
Intrauterine growth retardation ORPHA:2609
Leigh Syndrome With Leukodystrophy
ORPHA:255241
Mitochondrial Complex I Deficiency, Nuclear Type 6
OMIM:618228
Leigh Syndrome With Cardiomyopathy
ORPHA:70474
Leber Hereditary Optic Neuropathy
ORPHA:104

The table below shows human diseases predicted to be associated to Ndufs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Complex I Deficiency
Intrauterine growth retardation ORPHA:2609
Leigh Syndrome With Leukodystrophy
ORPHA:255241
Mitochondrial Complex I Deficiency, Nuclear Type 6
OMIM:618228
Leigh Syndrome With Cardiomyopathy
ORPHA:70474
Leber Hereditary Optic Neuropathy
ORPHA:104

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 Ndufs2

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 Ndufs2.

No publications found that use IMPC mice or data for Ndufs2.

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MGI Allele Allele Type Produced
Ndufs2em1(IMPC)Tcp Exon Deletion Mice
Ndufs2tm55519(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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