Fah | fumarylacetoacetate hydrolase
Physiological systems
22 / 24 physiological systems tested
13 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Immune system Endocrine/exocrine gland Integument Embryo Growth/size/body region Vision/eye Liver/biliary system Hematopoietic system Mortality/aging Cardiovascular system Renal/urinary system
9 No significant impact
2 Not tested
Data collections
Gene metrics:21Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal kidney morphology | 2 supporting datasets | Fahem1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Fahem1(IMPC)Mbp | homozygote | Early adult | N/A * | ||
| abnormal placenta vasculature | 1 supporting dataset | Fahem1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| embryonic growth retardation | 1 supporting dataset | Fahem1(IMPC)Mbp | heterozygote | E15.5 | N/A * | ||
| small liver | 1 supporting dataset | Fahem1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| persistence of hyaloid vascular system | 1 supporting dataset | Fahem1(IMPC)Mbp | heterozygote | Early adult | 4.81x10-6 | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Fahem1(IMPC)Mbp | heterozygote | Early adult | 2.15x10-6 | ||
| abnormal blood vessel morphology | 1 supporting dataset | Fahem1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal placenta morphology | 1 supporting dataset | Fahem1(IMPC)Mbp | heterozygote | E15.5 | N/A * | ||
| enlarged testis | 1 supporting dataset | Fahem1(IMPC)Mbp | heterozygote | Early adult | N/A * |
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Human diseases caused by Fah 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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Fah.
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| Fahem1(IMPC)Mbp | Exon Deletion | | mouse |
| Fahtm1(NCOM)Mfgc | Reporter-tagged deletion allele (with selection cassette) | | targeting vector ES Cell |
| Fahtm43479(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |