Symbol
Name
ID

Fah
fumarylacetoacetate hydrolase
MGI:95482

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Hypophosphatemic rickets

Hypertyrosinemia

Hypermethioninemia

Elevated circulating alpha-fetoprotein concentration

Elevated circulating hepatic transaminase concentration

Hypoglycemia

Metabolic acidosis

Renal Fanconi syndrome

Fever

Elevated urinary delta-aminolevulinic acid

Elevated urinary succinylacetone level

Ascites

Disease(s) Associated with FAH

tyrosinemia type I

Mouse Phenotypes

abnormal amino acid level

abnormal circulating amino acid level

increased circulating creatinine level

increased circulating tyrosine level

aminoaciduria

increased circulating bilirubin level

hypoglycemia

abnormal circulating aspartate transaminase level

increased circulating aspartate transaminase level

edema

increased alpha-fetoprotein level

abnormal urine homeostasis

increased susceptibility to xenobiotic induced morbidity/mortality

increased susceptibility to injury

Availability

Mouse Genotype

Fah^1R/Fah^1R

Fah^2R/Fah^2R

Fah^em1(IMPC)Mbp/Fah^em1(IMPC)Mbp

Fah^tm1Mgo/Fah^tm1Mgo

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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