Allele Symbol Allele Name Allele ID |
Ppoxtm1Had targeted mutation 1, Harry A Dailey MGI:5696597 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 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
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• 5-aminolevulinic acid treatment results in a 4-fold increase in the levels of the porphyrin precursor porphobilinogen in the urine compared to controls
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• 5-aminolevulinic acid treatment results in a 4-fold increase in the levels of the porphyrin precursor porphobilinogen in the urine compared to controls
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• hepatic protoporphyrinogen oxidase activity is reduced by about 50%
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
variegate porphyria | DOID:4346 |
OMIM:176200 |
J:226160 |
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 |
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