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Symbol
Name
ID
Fah
fumarylacetoacetate hydrolase
MGI:95482
Phenotype annotations related to renal/urinary system
Darker colors indicate more annotations
Human Phenotypes
Renal Fanconi syndrome
Elevated urinary delta-aminolevulinic acid
Elevated urinary succinylacetone level
Glomerular sclerosis
Enlarged kidney
Nephrocalcinosis
Renal insufficiency
Disease(s) Associated with FAH
tyrosinemia type I

Mouse Phenotypes
enlarged kidney
aminoaciduria
abnormal urine homeostasis
kidney inflammation
abnormal kidney morphology
small kidney
dilated renal tubule
kidney degeneration
pale kidney
Availability Mouse Genotype
Fah1R/Fah1R
Fah2R/Fah2R
Fahtm1Mgo/Fahtm1Mgo
Fahem1(IMPC)Mbp/Fah+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory