Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 | Ccdc103em4(IMPC)H | HOM | Early adult | 0.00 | ||
increased total body fat amount | Ccdc103em4(IMPC)H | HET | Early adult | 2.18×10-06 | ||
increased circulating amylase level | Ccdc103em4(IMPC)H | HET | Early adult | 3.12×10-05 | ||
decreased lean body mass | Ccdc103em4(IMPC)H | HET | Early adult | 1.78×10-06 |
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 Ccdc103 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Primary Ciliary Dyskinesia | ORPHA:244 | ||
Ciliary Dyskinesia, Primary, 17 | OMIM:614679 |
The table below shows human diseases predicted to be associated to Ccdc103 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Pentosuria | Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level | ORPHA:2843 | |
Primary Ciliary Dyskinesia | ORPHA:244 | ||
Ciliary Dyskinesia, Primary, 17 | OMIM:614679 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ccdc103tm43210(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Ccdc103em3H | Indel | Mice |
Ccdc103em1H | Point Mutation | Mice |
Ccdc103em2H | Point Mutation | Mice |
Ccdc103em4(IMPC)H | Indel | Mice |
Ccdc103tm43210(L1L2_gt0) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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