Efemp1 | epidermal growth factor-containing fibulin-like extracellular matrix protein 1
GeneMGI:1339998
Physiological systems
22 / 24 physiological systems tested
2 Significantly impacted by the knock-out
Digestive/alimentary Mortality/aging
20 No significant impact
2 Not tested
Data collections
Gene metrics:2Significant phenotypes
5Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues
| preweaning lethality, incomplete penetrance | 1 supporting dataset | Efemp1tm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * | ||
| abnormal cecum morphology | 1 supporting dataset | Efemp1tm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | Section images | 50% (1/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| blood | heterozygote | n/a | 0% (0/2) | 0% (0/17) |
| bone marrow | heterozygote | n/a | 0% (0/2) | 0% (0/22) |
| brain | heterozygote | n/a | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | n/a | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | n/a | 0.22% (1/454) |
| cecum | heterozygote | n/a | 0% (0/2) | 7.75% (22/284) |
| cerebellum | heterozygote | Section images | 100% (2/2) | 0.56% (3/532) |
Human diseases caused by Efemp1 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.
External links
No external links available for Efemp1.
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| Efemp1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell mouse |
| Efemp1tm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | | mouse |
| Efemp1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Efemp1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |