Phenotypes Associated with This Genotype

Genotype
MGI:3621357

• Allelic Composition: Uros^tm1Cged/Uros^tm1Cged
• Genetic Background: involves: 129S2/SvPas

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

homeostasis/metabolism

porphyria ( J:105776 )

• 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

erythruria ( J:105776 )

• red urine

hematopoietic system

enlarged spleen ( J:105776 )

• spleen is enlarged and has a brownish color due to accumulation of porphyrins

hemolytic anemia ( J:105776 )

• high reticulocyte count and presence of many erythroblasts with poikilocytosis and anisochromia indicate ongoing hemolysis

hypochromic microcytic anemia ( J:105776 )

• severe microcytic and hypochromic anemia

increased bone marrow cell number ( J:105776 )

• increase in the number of erythroid precursor cells

anisocytosis ( J:105776 )

poikilocytosis ( J:105776 )

increased spleen red pulp amount ( J:105776 )

• enlarged red pulp and increase in erythroid precursor cells

craniofacial

erythrodontia ( J:105776 )

immune system

enlarged spleen ( J:105776 )

• spleen is enlarged and has a brownish color due to accumulation of porphyrins

increased spleen red pulp amount ( J:105776 )

• enlarged red pulp and increase in erythroid precursor cells

liver/biliary system

enlarged liver ( J:105776 )

• liver is enlarged and a brownish color due to accumulation of porphyrins

hepatic steatosis ( J:105776 )

• clusters of erythroid cells are associated with mild centrilobular steatosis

renal/urinary system

erythruria ( J:105776 )

• red urine

abnormal renal glomerulus morphology ( J:105776 )

• accumulation of eosinophilic material in the glomeruli

abnormal renal tubule morphology ( J:105776 )

• accumulation of eosinophilic material in the tubules

abnormal proximal convoluted tubule morphology ( J:105776 )

• iron deposition in the epithelial layer of the proximal cortical tubules

skeleton

abnormal skeleton morphology ( J:105776 )

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

erythrodontia ( J:105776 )

fragile skeleton ( J:105776 )

growth/size/body

erythrodontia ( J:105776 )

decreased birth body size ( J:105776 )

• hypotrophic at birth

enlarged liver ( J:105776 )

• liver is enlarged and a brownish color due to accumulation of porphyrins

enlarged spleen ( J:105776 )

• spleen is enlarged and has a brownish color due to accumulation of porphyrins

integument

skin photosensitivity ( J:105776 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutaneous porphyria		DOID:13271	OMIM:263700	J:105776