Mouse Genome Informatics
hm
    Urostm1Cged/Urostm1Cged
involves: 129S2/SvPas
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• teeth, liver, spleen, bones and kidneys are a reddish-brown color due to accumulation of porphyrins
• massive accumulation of porphyrins is found in the blood, urine, and feces
• red urine

hematopoietic system
• high reticulocyte count and presence of many erythroblasts with poikilocytosis and anisochromia indicate ongoing hemolysis
• severe microcytic and hypochromic anemia
• increase in the number of erythroid precursor cells
• enlarged red pulp and increase in erythroid precursor cells
• spleen is enlarged and has a brownish color due to accumulation of porphyrins

craniofacial
• erythrodontia

immune system
• enlarged red pulp and increase in erythroid precursor cells
• spleen is enlarged and has a brownish color due to accumulation of porphyrins

liver/biliary system
• liver is enlarged and a brownish color due to accumulation of porphyrins
• clusters of erythroid cells are associated with mild centrilobular steatosis

renal/urinary system
• red urine
• accumulation of eosinophilic material in the glomeruli
• accumulation of eosinophilic material in the tubules
• iron deposition in the epithelial layer of the proximal cortical tubules

skeleton
• bones are an intense reddish-brown color after removal of the bone marrow

growth/size
• hypotrophic at birth

integument
• photosensitive lesions are seen on the ears and back of the neck

Mouse Models of Human Disease
OMIM IDRef(s)
Porphyria, Congenital Erythropoietic 263700 J:105776