Gene: Ccdc8 MGI:3612184
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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.
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 |
---|---|---|---|
3M Syndrome | Intrauterine growth retardation, Short stature | ORPHA:2616 | |
Three M Syndrome 3 | Growth delay, Short stature | OMIM:614205 |
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 11 publications which use IMPC produced mice or data.
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MGI Allele | Allele Type | Produced |
---|---|---|
Ccdc8tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Ccdc8tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Ccdc8em1(IMPC)Tcp | Intra-exon deletion | Mice |
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