Gene Summary

Name:
cytochrome c oxidase assembly factor 8
Synonyms:
Apopt1,  1700081D05Rik,  2810002N01Rik,  Apop-1

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
preweaning lethality, incomplete penetrance Coa8em1(IMPC)Bay HOM   Early adult 0.00
preweaning lethality, complete penetrance Coa8em1(IMPC)Bay 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.

Phenotype associated images not available

Human diseases caused by Coa8 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 Coa8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia OMIM:619061
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Gait disturbance, Ataxia ORPHA:436271

The table below shows human diseases predicted to be associated to Coa8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myxedema
Fatigue, Paresthesia, Memory impairment, Lethargy OMIM:255900
Oxoglutaric Aciduria
Ataxia, Abnormality of Krebs cycle metabolism ORPHA:31
Friedreich Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation, Limb ataxia, Gait ataxia, Decrease... OMIM:229300
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Dystonia, Spastic ataxia, Lethargy OMIM:277410
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia OMIM:619061
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:251110
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Chorea, Ataxia, Gait ataxia, Abnormality of Krebs cycle metabolism ORPHA:255210
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:251100
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Impaired proprioception, Steppage gait, Distal sensory impairment, Ataxia, Impaired vibratory sen... OMIM:302900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Dementia, Lethargy OMIM:277400
Friedreich Ataxia 2
Ataxia, Impaired vibratory sensation, Decreased pyruvate carboxylase activity OMIM:601992
Friedreich Ataxia And Congenital Glaucoma
Ataxia, Impaired vibratory sensation, Decreased pyruvate carboxylase activity OMIM:229310
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Gait disturbance, Ataxia ORPHA:436271

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 Coa8

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 Coa8.

No publications found that use IMPC mice or data for Coa8.

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MGI Allele Allele Type Produced
Coa8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Coa8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Coa8em1(IMPC)Bay Exon Deletion Mice

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