Ccbe1 | collagen and calcium binding EGF domains 1
Physiological systems
22 / 24 physiological systems tested
8 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Embryo Vision/eye Liver/biliary system Mortality/aging Cardiovascular system Craniofacial
14 No significant impact
2 Not tested
Data collections
Gene metrics:16Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| enlarged uterus | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| pale liver | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| small liver | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| edema | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| microphthalmia | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal placenta morphology | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal retina morphology | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | heterozygote | Early adult | 2.73x10-5 | ||
| abnormal uterus morphology | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Ccbe1em1(IMPC)Mbp | heterozygote | Early adult | 3.36x10-8 | ||
| preweaning lethality, complete penetrance | 3 supporting datasets | Ccbe1em1(IMPC)Mbp | homozygote | Early adult | N/A * |
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Human diseases caused by Ccbe1 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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Ccbe1.
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| Ccbe1em1(IMPC)Mbp | Exon Deletion | | mouse |
| Ccbe1tm46161(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |