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Phenotypes Associated with This Genotype
Genotype
MGI:2449959
Allelic
Composition
Epb41tm1Cnby/Epb41tm1Cnby
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epb41tm1Cnby mutation (0 available); any Epb41 mutation (70 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• moderate
• mechanically compromised membrane; also increased osmotic fragility
• accelerated erythropoiesis in the spleen and liver
• 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
• 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 ID Ref(s)
Elliptocytosis 1; EL1 611804 J:77852


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
07/12/2016
MGI 6.04
The Jackson Laboratory