Phenotypes associated with this allele

• Allele Symbol: Hgd^aku
• Allele Name: alkaptonuria
• Allele ID: MGI:1856664
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hgd^aku/Hgd^aku	either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB)	MGI:3617439
cx2	Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd^aku	involves: 129S7/SvEvBrd * NB	MGI:3617440
cx3	Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd^+	involves: 129S7/SvEvBrd * NB	MGI:3617441

Genotype
MGI:3617439

hm1

• Allelic Composition: Hgd^aku/Hgd^aku
• Genetic Background: either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB)

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

homeostasis/metabolism

abnormal urine color ( J:16506 )

• urine gradually turns dark over several days

• causes darkening of bedding

• ochronosis which is typical of alkaptonuria in humans does not occur in mice

homogentisic aciduria ( J:16506 )

• high levels of urinary homogentisic acid

skeleton

skeleton phenotype ( J:16506 )

N • arthritis which is typical of alkaptonuria in humans does not occur in mice

renal/urinary system

abnormal urine color ( J:16506 )

• urine gradually turns dark over several days

• causes darkening of bedding

• ochronosis which is typical of alkaptonuria in humans does not occur in mice

homogentisic aciduria ( J:16506 )

• high levels of urinary homogentisic acid

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alkaptonuria		DOID:9270	OMIM:203500	J:16506

Genotype
MGI:3617440

cx2

• Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo; Hgd^aku/Hgd^aku
• Genetic Background: involves: 129S7/SvEvBrd * NB

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

homeostasis/metabolism phenotype ( J:77295 )

N • mice remain healthy even when the drug NTCB is withdrawn

N • plasma tyrosine levels are normal

liver/biliary system

liver/biliary system phenotype ( J:77295 )

N • normal liver function and histology

renal/urinary system

renal/urinary system phenotype ( J:77295 )

N • kidneys normal

Genotype
MGI:3617441

cx3

• Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo; Hgd^aku/Hgd⁺
• Genetic Background: involves: 129S7/SvEvBrd * NB

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 withdrawl from NTBC

liver/biliary system

abnormal liver morphology ( J:77295 )

• after withdrawl from NTBC

abnormal hepatocyte morphology ( J:77295 )

• nodules of normal hepatocytes among abnormal hepatocytes

pale liver ( J:77295 )

abnormal liver physiology ( J:77295 )

• abnormal liver function after withdrawl from NTBC

jaundice ( J:77295 )

• after withdrawl from NTBC

renal/urinary system

kidney inflammation ( J:77295 )

• after withdrawl from NTBC

dilated renal tubule ( J:77295 )

• after withdrawl from NTBC

growth/size/body

weight loss ( J:77295 )

• loose weight and become sick after withdrawl from NTBC

immune system

kidney inflammation ( J:77295 )

• after withdrawl from NTBC