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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppoxtm1Had
targeted mutation 1, Harry A Dailey
MGI:5696597
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ppoxtm1Had/Ppoxtm1Had involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5697203
ht2
Ppoxtm1Had/Ppox+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5697204


Genotype
MGI:5697203
hm1
Allelic
Composition
Ppoxtm1Had/Ppoxtm1Had
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 (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes are born




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 (31 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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory