Furin | furin, paired basic amino acid cleaving enzyme
Physiological systems
21 / 24 physiological systems tested
3 Significantly impacted by the knock-out
Integument Limbs/digits/tail Mortality/aging
18 No significant impact
3 Not tested
Gene metrics:4Significant phenotypes
0Associated diseases
Expression examined in:46Adult tissues
21Embryo tissues
| preweaning lethality, complete penetrance | 1 supporting dataset | Furintm1b(EUCOMM)Wtsi | homozygote | Early adult | N/A * | ||
| abnormal vibrissa morphology | 1 supporting dataset | Furintm1b(EUCOMM)Wtsi | heterozygote | Early adult | 9.94x10-12 | ||
| brachydactyly | 1 supporting dataset | Furintm1b(EUCOMM)Wtsi | heterozygote | Early adult | 5.02x10-8 | ||
| embryonic lethality prior to tooth bud stage | 1 supporting dataset | Furintm1b(EUCOMM)Wtsi | homozygote | E12.5 | N/A * |
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| adrenal gland | heterozygote | n/a | 100% (4/4) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 100% (4/4) | 0.19% (1/533) |
| bone | heterozygote | n/a | 100% (4/4) | 0% (0/394) |
| brain | heterozygote | n/a | 100% (4/4) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 100% (4/4) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 100% (4/4) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 100% (4/4) | 0.22% (1/454) |
| cerebellum | heterozygote | n/a | 100% (4/4) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 100% (4/4) | 0.41% (2/491) |
| esophagus | heterozygote | n/a | 100% (4/4) | 1.67% (7/419) |
Human diseases caused by Furin 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 Furin.
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| Furintm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Furintm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Furintm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |