Tfeb | transcription factor EB
Physiological systems
22 / 24 physiological systems tested
6 Significantly impacted by the knock-out
Homeostasis/metabolism Adipose tissue Growth/size/body region Hematopoietic system Behavior/neurological Mortality/aging
16 No significant impact
2 Not tested
Gene metrics:9Significant phenotypes
1Associated diseases
Expression examined in:51Adult tissues
62Embryo tissues
| preweaning lethality, complete penetrance | 2 supporting datasets | Tfebtm1a(EUCOMM)Wtsi | homozygote | Early adult | N/A * | ||
| decreased lean body mass | 1 supporting dataset | Tfebtm1b(EUCOMM)Wtsi | heterozygote | Early adult | 8.62x10-5 | ||
| embryonic lethality prior to tooth bud stage | 1 supporting dataset | Tfebtm1b(EUCOMM)Wtsi | homozygote | E12.5 | N/A * | ||
| preweaning lethality, complete penetrance | 3 supporting datasets | Tfebtm1b(EUCOMM)Wtsi | homozygote | Early adult | N/A * | ||
| unresponsive to tactile stimuli | 1 supporting dataset | Tfebtm1b(EUCOMM)Wtsi | heterozygote | E18.5 | N/A * | ||
| increased total body fat amount | 1 supporting dataset | Tfebtm1b(EUCOMM)Wtsi | heterozygote | Early adult | 5.04x10-5 | ||
| decreased hemoglobin content | 1 supporting dataset | Tfebtm1a(EUCOMM)Wtsi | heterozygote | Early adult | 2.78x10-5 | ||
| increased lean body mass | 2 supporting datasets | Tfebtm1a(EUCOMM)Wtsi | heterozygote | Early adult | 1.22x10-5 | ||
| trunk curl | 1 supporting dataset | Tfebtm1b(EUCOMM)Wtsi | heterozygote | Early adult | 1.33x10-5 | ||
| decreased circulating alkaline phosphatase level | 1 supporting dataset | Tfebtm1a(EUCOMM)Wtsi | heterozygote | Early adult | 3.87x10-5 |
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| adrenal gland | heterozygote | Wholemount images | 100% (3/3) | 0.7% (4/570) |
| aorta | heterozygote | Wholemount images | 100% (3/3) | 0.19% (1/533) |
| bone | heterozygote | Wholemount images | 100% (3/3) | 0% (0/394) |
| brain | heterozygote | Wholemount images | 100% (3/3) | 0.86% (5/579) |
| brainstem | heterozygote | Wholemount images | 100% (3/3) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/3) | 0% (0/588) |
| cartilage tissue | heterozygote | Wholemount images | 100% (3/3) | 0.22% (1/454) |
| cecum | heterozygote | n/a | 0% (0/3) | 7.75% (22/284) |
| cerebellum | heterozygote | Wholemount images | 100% (3/3) | 0.56% (3/532) |
| cerebral cortex | heterozygote | Wholemount images | 100% (3/3) | 0.41% (2/491) |
Human diseases caused by Tfeb 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 Tfeb.
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| Tfebtm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell |
| Tfebtm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Tfebtm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Tfebtm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |