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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppox+
wild type
MGI:2433505
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Ppoxem1(IMPC)J/Ppox+ C57BL/6NJ-Ppoxem1(IMPC)J/Mmjax MGI:6493037
ht2
Ppoxtm1Had/Ppox+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5697204
ht3
Ppoxtm1.1Had/Ppox+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5697205


Genotype
MGI:6493037
ht1
Allelic
Composition
Ppoxem1(IMPC)J/Ppox+
Genetic
Background
C57BL/6NJ-Ppoxem1(IMPC)J/Mmjax
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppoxem1(IMPC)J mutation (2 available); any Ppox mutation (32 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear

homeostasis/metabolism




Genotype
MGI:5697204
ht2
Allelic
Composition
Ppoxtm1Had/Ppox+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppoxtm1Had mutation (1 available); any Ppox mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• mice exhibit an increase in porphyrin output in the stool
• excretory proto- and coprophyrin concentrations are increased about 3- and 2-fold, respectively
• stool porphyrin is further increased upon addition of 5-aminolevulinic acid to the drinking water; with increases seen in all prophyrins, with protoporhyrin most elevated

renal/urinary system
• 5-aminolevulinic acid treatment results in a 4-fold increase in the levels of the porphyrin precursor porphobilinogen in the urine compared to controls

homeostasis/metabolism
• 5-aminolevulinic acid treatment results in a 4-fold increase in the levels of the porphyrin precursor porphobilinogen in the urine compared to controls
• hepatic protoporphyrinogen oxidase activity is reduced by about 50%

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
variegate porphyria DOID:4346 OMIM:176200
J:226160




Genotype
MGI:5697205
ht3
Allelic
Composition
Ppoxtm1.1Had/Ppox+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppoxtm1.1Had mutation (0 available); any Ppox mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• mice exhibit an increase in porphyrin output in the stool
• excretory proto- and coprophyrin concentrations are increased about 3- and 2-fold, respectively
• stool porphyrin is further increased upon addition of 5-aminolevulinic acid to the drinking water; with increases seen in all prophyrins, with protoporhyrin most elevated

renal/urinary system
• 5-aminolevulinic acid treatment results in a 4-fold increase in the levels of the porphyrin precursor porphobilinogen in the urine compared to controls

homeostasis/metabolism
• 5-aminolevulinic acid treatment results in a 4-fold increase in the levels of the porphyrin precursor porphobilinogen in the urine compared to controls
• hepatic protoporphyrinogen oxidase activity is reduced by about 50%

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
variegate porphyria DOID:4346 OMIM:176200
J:226160





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last database update
05/21/2024
MGI 6.23
The Jackson Laboratory