Gene Summary

Name:
coiled-coil domain containing 8
Synonyms:
ENSMUSG00000041117

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, complete penetrance Ccdc8em1(IMPC)Tcp HOM   Early adult 0.00
increased total body fat amount Ccdc8em1(IMPC)Tcp HET Early adult 7.24×10-05

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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ccdc8 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 Ccdc8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
3M Syndrome
Intrauterine growth retardation, Short stature ORPHA:2616
Three M Syndrome 3
Growth delay, Short stature OMIM:614205

The table below shows human diseases predicted to be associated to Ccdc8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
3M Syndrome
Intrauterine growth retardation, Short stature ORPHA:2616
Three M Syndrome 3
Growth delay, Short stature OMIM:614205

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 Ccdc8

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 Ccdc8.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules. Scientific reports (October 2021) Ccdc88ctm1(KOMP)Mbp PMC8511111
EMX2-GPR156-Gαi reverses hair cell orientation in mechanosensory epithelia. Nature communications (May 2021) Ccdc88ctm1.1(KOMP)Mbp PMC8129141
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ccdc85cem1(IMPC)Wtsi PMC7263671
Cytoplasmic Dynein Functions in Planar Polarization of Basal Bodies within Ciliated Cells. iScience (June 2020) Ccdc88ctm1(KOMP)Mbp PMC7300155
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ccdc85cem1(IMPC)Wtsi PMC6671969
Ccdc87 is critical for sperm function and male fertility. Biology of reproduction (October 2018) Ccdc87tm1(KOMP)Vlcg 29733332
Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles. Proceedings of the National Academy of Sciences of the United States of America (December 2017) Ccdc88ctm1(KOMP)Mbp Ccdc88ctm1.1(KOMP)Mbp PMC5748220
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ccdc88ctm1b(KOMP)Mbp PMC5638796
Daple Coordinates Planar Polarized Microtubule Dynamics in Ependymal Cells and Contributes to Hydrocephalus. Cell reports (July 2017) Ccdc88ctm1(KOMP)Mbp 28746879

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MGI Allele Allele Type Produced
Ccdc8em1(IMPC)Tcp Intra-exon deletion Mice
Ccdc8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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