Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Ccdc47 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Trichohepatoneurodevelopmental Syndrome | Patent ductus arteriosus | OMIM:618268 |
The table below shows human diseases predicted to be associated to Ccdc47 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Granulomas, Congenital Cerebral | Neonatal death | OMIM:306300 | |
Genitourinary Tract Anomalies | Neonatal death | OMIM:305690 | |
Pulmonary Hypoplasia, Primary | Neonatal death | OMIM:265430 | |
Epidermolysis Bullosa With Diaphragmatic Hernia | Neonatal death | OMIM:226735 | |
Hernia, Anterior Diaphragmatic | Neonatal death | OMIM:306950 | |
Neutropenia, Lethal Congenital, With Eosinophilia | Neonatal death | OMIM:257100 | |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome | Neonatal death, Patent ductus arteriosus | OMIM:601612 | |
Trichohepatoneurodevelopmental Syndrome | Patent ductus arteriosus | OMIM:618268 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ccdc47tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Ccdc47tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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