Mouse Genome Informatics
hm
    Epb4.1tm1Cnby/Epb4.1tm1Cnby
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hematopoietic system
• accelerated erythropoiesis in the spleen and liver
• mechanically compromised membrane; also increased osmotic fragility
• 37% vs. 51% in wild-type mice
• red blood cells have a broader distribution of hemoglobin content that include cells with lower than normal hemoglobin content
• increased mean cell hemoglobin concentration
• decreased mean cell volume
• morphologic heterogeneity with many fragmented cells
• spherocytic morphology
• 11% vs. 2.5% in wild-type of reticulocytes in the blood
• moderate
• iron deposition is reduced in spleen
• red pulp areas are expanded and filled with erythroid precursor cells
• 8 to 9-fold enlargement

immune system
• iron deposition is reduced in spleen
• red pulp areas are expanded and filled with erythroid precursor cells
• 8 to 9-fold enlargement

homeostasis/metabolism
• iron deposition is reduced in spleen
• serum glutamic-oxaloacetic transaminase is elevated 2-3-fold
• creatine phosphokinase levels are increased about 2-fold in the blood
• extensive deposition of iron in the kidney proximal convoluted tubules
• increase in deposition of iron in the liver, indicating incrased red cell destruction

liver/biliary system
• increase in deposition of iron in the liver, indicating incrased red cell destruction

renal/urinary system
• extensive deposition of iron in the kidney proximal convoluted tubules

Mouse Models of Human Disease
OMIM IDRef(s)
Elliptocytosis 1; EL1 611804 J:77852