Phenotypes Associated with This Genotype

Genotype
MGI:5697204

• Allelic Composition: Ppox^tm1Had/Ppox⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

digestive/alimentary system

abnormal feces composition ( J:226160 )

• 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

abnormal urine homeostasis ( J:226160 )

• 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

abnormal urine homeostasis ( J:226160 )

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

abnormal enzyme/coenzyme activity ( J:226160 )

• 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