Hace1 | HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Physiological systems
20 / 24 physiological systems tested
1 Significantly impacted by the knock-out
Mortality/aging
19 No significant impact
4 Not tested
Data collections
Gene metrics:2Significant phenotypes
3Associated diseases
Expression examined in:46Adult tissues
21Embryo tissues
| preweaning lethality, incomplete penetrance | 1 supporting dataset | Hace1tm1b(KOMP)Wtsi | homozygote | Early adult | N/A * | ||
| embryonic lethality prior to tooth bud stage | 1 supporting dataset | Hace1tm1b(KOMP)Wtsi | homozygote | E12.5 | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| bone | heterozygote | n/a | 0% (0/2) | 0% (0/394) |
| brain | heterozygote | n/a | 0% (0/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 0% (0/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/1) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 0% (0/2) | 0.41% (2/491) |
| esophagus | heterozygote | n/a | 100% (2/2) | 1.67% (7/419) |
Human diseases caused by Hace1 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 Hace1.
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| Hace1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Hace1tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Hace1tm1c(KOMP)Wtsi | Wild type floxed exon (post-Flp) | | mouse |