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Gene: Cox18 MGI:2448532

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Gene Summary

Name:
cytochrome c oxidase assembly protein 18
Synonyms:
N/A

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IMPC Data Collections

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
decreased prepulse inhibition Cox18em1(IMPC)J HET Early adult 4.07×10-06
embryonic lethality prior to tooth bud stage Cox18em1(IMPC)J HOM   E12.5 0.00
preweaning lethality, complete penetrance Cox18em1(IMPC)J HOM   Early adult 0.00
abnormal neural tube closure Cox18em1(IMPC)J HOM E9.5 0.00
embryonic growth retardation Cox18em1(IMPC)J HOM E9.5 0.00
prenatal lethality Cox18em1(IMPC)J HOM   E18.5 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.

Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Cox18 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 Cox18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Alg3-Cdg
Neural tube defect ORPHA:79321
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93924
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798

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 Cox18

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 Cox18.

No publications found that use IMPC mice or data for Cox18.

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
Cox18em1(IMPC)J Exon Deletion Mice
Cox18tm45902(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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