Gene Summary

Name:
cytochrome c oxidase subunit 7A2 like
Synonyms:
COX7AR,  SIG81,  EB1,  SIG-81,  COX7RP

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.

Combined SHIRPA and Dysmorphology

Images

3 Images

Human diseases caused by Cox7a2l 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 Cox7a2l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism ORPHA:31
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277410
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277400
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Intrinsic hand muscle atrophy, ... OMIM:302900
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity OMIM:601992
Friedreich Ataxia And Congenital Glaucoma
Decreased pyruvate carboxylase activity OMIM:229310

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 Cox7a2l

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 Cox7a2l.

No publications found that use IMPC mice or data for Cox7a2l.

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MGI Allele Allele Type Produced
Cox7a2ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cox7a2ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cox7a2lem1(IMPC)J Whole-gene deletion Mice

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