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Gene: Coa8 MGI:1915270

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Gene Summary

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

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IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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

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MicroCT E18.5

Embryo reconstruction

8 Images

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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
Ataxia, Gait disturbance ORPHA:436271

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Lethargy, Gait disturbance ORPHA:79283
Adiposis Dolorosa
Fatigue, Arthralgia, Chronic pain, Depression OMIM:103200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue, Ataxia, Depression, Gait ataxia OMIM:613077
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Decreased pyruvate carboxylase act... OMIM:229300
Parkinson Disease 20, Early-Onset
Fatigue, Bradykinesia, Gait disturbance, Shuffling gait, Mental deterioration, Short stepped shuf... OMIM:615530
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia OMIM:619061
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Decreased methylmalonyl-CoA mutase activity, Dementia, Lethargy, Delirium OMIM:277400
Methylmalonic Aciduria, Cblb Type
Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Chorea, Ataxia, Gait ataxia ORPHA:255210
Methylmalonic Aciduria, Cbla Type
Lethargy, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Friedreich Ataxia 2
Impaired vibratory sensation, Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Fumarase Deficiency
Decreased fumarate hydratase activity OMIM:606812
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Gait disturbance 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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