Phenotypes Associated with This Genotype

Genotype
MGI:3617447

• Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo
• Genetic Background: involves: 129S7/SvEvBrd * PT

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Liver disease in Fah^tm1Mgo/Fah^tm1Mgo mice and liver histology of Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd^aku and Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd⁺ mice after treatment with the drug NTCB

homeostasis/metabolism

increased circulating tyrosine level ( J:77295 )

• plasma tyrosine levels become elevated after withdrawal from 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

liver/biliary system

pale liver ( J:77295 )

• after withdrawal from NTBC

abnormal liver physiology ( J:77295 )

• abnormal liver function

jaundice ( J:77295 )

• after withdrawal from NTBC

renal/urinary system

kidney inflammation ( J:77295 )

• after withdrawal from NTBC

dilated renal tubule ( J:77295 )

• after withdrawal from NTBC

growth/size/body

weight loss ( J:77295 )

• lose weight and become sick after withdrawal from NTBC

immune system

kidney inflammation ( J:77295 )

• after withdrawal from NTBC

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tyrosinemia type I		DOID:0050726	OMIM:276700	J:77295