Ube3a | ubiquitin protein ligase E3A
Physiological systems
21 / 24 physiological systems tested
7 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Endocrine/exocrine gland Adipose tissue Hematopoietic system Behavior/neurological Skeleton
14 No significant impact
3 Not tested
Data collections
Gene metrics:11Significant phenotypes
6Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| decreased bone mineral density | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 3.13x10-5 | ||
| decreased vertical activity | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 7.28x10-13 | ||
| decreased locomotor activity | 7 supporting datasets | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 5.7x10-11 | ||
| hyperactivity | 3 supporting datasets | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 8.12x10-7 | ||
| decreased food intake | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 6.4x10-6 | ||
| decreased locomotor activity | 4 supporting datasets | Ube3aem1(IMPC)Hmgu | heterozygote | Early adult | 1.38x10-6 | ||
| decreased respiratory quotient | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | heterozygote | Early adult | 5.85x10-7 | ||
| decreased respiratory quotient | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 2x10-6 | ||
| decreased bone mineral content | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 9.14x10-8 | ||
| increased total body fat amount | 1 supporting dataset | Ube3aem1(IMPC)Hmgu | homozygote | Early adult | 4.39x10-5 |
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Human diseases caused by Ube3a 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 Ube3a.
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| Ube3aem1(IMPC)Hmgu | Deletion | | mouse |
| Ube3atm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Ube3atm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |
| Ube3atm2a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Ube3atm3e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |