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Phenotypes Associated with This Genotype
Genotype
MGI:3621357
Allelic
Composition
Urostm1Cged/Urostm1Cged
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Urostm1Cged mutation (1 available); any Uros mutation (11 available)
phenotype observed in females
phenotype observed in males
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
• erythrodontia

growth/size/body
• erythrodontia
• hypotrophic at birth

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory