Phenotypes Associated with This Genotype

Genotype
MGI:3777397

• Allelic Composition: Uros^tm3Rjde/Uros^tm3Rjde
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

homeostasis/metabolism

increased porphyrin level ( J:132542 )

• mice have marked accumulation in bones, and display fluorescent erythrodontia

abnormal enzyme/coenzyme activity ( J:132542 )

• hepatic, splenic and erythrocytic uroporphyrinogen III synthase (URO-synthase) activity is greatly reduced compared to wild-type

hematopoietic system

hematopoietic system phenotype ( J:132542 )

N • 16-18-month old animals show similar ertythrocyte counts, hematocrits, hemoglobin concentrations, mean corpuscular volumes, and total leukocyte counts to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutaneous porphyria		DOID:13271	OMIM:263700	J:132542