Mouse Genome Informatics
hm1
    Hgdaku/Hgdaku
either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• high levels of homogenistic acid
• urine gradually turns dark over several days
• causes darkening of bedding
• ochronosis which is typical of alkaptonuria in humans does not occur in mice

skeleton
N
• arthritis which is typical of alkaptonuria in humans does not occur in mice (J:16506)

renal/urinary system
• high levels of homogenistic acid
• urine gradually turns dark over several days
• causes darkening of bedding
• ochronosis which is typical of alkaptonuria in humans does not occur in mice

Mouse Models of Human Disease
OMIM IDRef(s)
Alkaptonuria; AKU 203500 J:16506


Mouse Genome Informatics
cx2
    Fahtm1Mgo/Fahtm1Mgo
Hgdaku/Hgdaku

involves: 129S7/SvEvBrd * NB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Liver disease in Fahtm1Mgo/Fahtm1Mgo mice and liver histology of Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgdaku and Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgd+ mice after treatment with the drug NTCB

homeostasis/metabolism
N
• mice remain healthy even when the drug NTCB is withdrawn (J:77295)
• plasma tyrosine levels are normal (J:77295)

liver/biliary system
N
• normal liver function and histology (J:77295)

renal/urinary system
N
• kidneys normal (J:77295)


Mouse Genome Informatics
cx3
    Fahtm1Mgo/Fahtm1Mgo
Hgdaku/Hgd+

involves: 129S7/SvEvBrd * NB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Liver disease in Fahtm1Mgo/Fahtm1Mgo mice and liver histology of Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgdaku and Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgd+ mice after treatment with the drug NTCB

homeostasis/metabolism
• plasma tyrosine levels become elevated after withdrawl from NTBC

liver/biliary system
• after withdrawl from NTBC
• nodules of normal hepatocytes among abnormal hepatocytes
• abnormal liver function after withdrawl from NTBC
• after withdrawl from NTBC

renal/urinary system
• after withdrawl from NTBC
• after withdrawl from NTBC

growth/size
• loose weight and become sick after withdrawl from NTBC

immune system
• after withdrawl from NTBC