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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hgdaku
alkaptonuria
MGI:1856664
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hgdaku/Hgdaku either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB) MGI:3617439
cx2
Fahtm1Mgo/Fahtm1Mgo
Hgdaku/Hgdaku
involves: 129S7/SvEvBrd * NB MGI:3617440
cx3
Fahtm1Mgo/Fahtm1Mgo
Hgdaku/Hgd+
involves: 129S7/SvEvBrd * NB MGI:3617441


Genotype
MGI:3617439
hm1
Allelic
Composition
Hgdaku/Hgdaku
Genetic
Background
either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hgdaku mutation (1 available); any Hgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• high levels of homogenistic acid (J:16506)
• high levels of homogenistic acid (J:16506)
• urine gradually turns dark over several days (J:16506)
• causes darkening of bedding (J:16506)
• ochronosis which is typical of alkaptonuria in humans does not occur in mice (J:16506)
• urine gradually turns dark over several days (J:16506)
• causes darkening of bedding (J:16506)
• ochronosis which is typical of alkaptonuria in humans does not occur in mice (J:16506)

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

renal/urinary system
• high levels of homogenistic acid (J:16506)
• high levels of homogenistic acid (J:16506)
• urine gradually turns dark over several days (J:16506)
• causes darkening of bedding (J:16506)
• ochronosis which is typical of alkaptonuria in humans does not occur in mice (J:16506)
• urine gradually turns dark over several days (J:16506)
• causes darkening of bedding (J:16506)
• ochronosis which is typical of alkaptonuria in humans does not occur in mice (J:16506)

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




Genotype
MGI:3617440
cx2
Allelic
Composition
Fahtm1Mgo/Fahtm1Mgo
Hgdaku/Hgdaku
Genetic
Background
involves: 129S7/SvEvBrd * NB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fahtm1Mgo mutation (0 available); any Fah mutation (4 available)
Hgdaku mutation (1 available); any Hgd mutation (4 available)
phenotype observed in females
phenotype observed in males
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)
• 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)
• normal liver function and histology (J:77295)

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




Genotype
MGI:3617441
cx3
Allelic
Composition
Fahtm1Mgo/Fahtm1Mgo
Hgdaku/Hgd+
Genetic
Background
involves: 129S7/SvEvBrd * NB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fahtm1Mgo mutation (0 available); any Fah mutation (4 available)
Hgdaku mutation (1 available); any Hgd mutation (4 available)
phenotype observed in females
phenotype observed in males
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 (J:77295)
• plasma tyrosine levels become elevated after withdrawl from NTBC (J:77295)

liver/biliary system
• after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)
• nodules of normal hepatocytes among abnormal hepatocytes (J:77295)
• nodules of normal hepatocytes among abnormal hepatocytes (J:77295)
• abnormal liver function after withdrawl from NTBC (J:77295)
• abnormal liver function after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)

renal/urinary system
• after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)

growth/size/body
• loose weight and become sick after withdrawl from NTBC (J:77295)
• loose weight and become sick after withdrawl from NTBC (J:77295)

immune system
• after withdrawl from NTBC (J:77295)
• after withdrawl from NTBC (J:77295)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory