Phenotypes Associated with This Genotype

Genotype
MGI:2449959

• Allelic Composition: Epb41^tm1Cnby/Epb41^tm1Cnby
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

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

hematopoietic system

enlarged spleen ( J:77852 )

• 8 to 9-fold enlargement

extramedullary hematopoiesis ( J:77852 )

• in spleen

hemolytic anemia ( J:77852 )

• moderate

abnormal erythrocyte morphology ( J:77852 )

• mechanically compromised membrane; also increased osmotic fragility

abnormal erythropoiesis ( J:77852 )

• accelerated erythropoiesis in the spleen and liver

decreased hematocrit ( J:77852 )

• 37% vs. 51% in wild-type mice

decreased cellular hemoglobin content ( J:77852 )

• red blood cells have a broader distribution of hemoglobin content that include cells with lower than normal hemoglobin content

increased mean corpuscular hemoglobin ( J:77852 )

• increased mean cell hemoglobin concentration

decreased mean corpuscular volume ( J:77852 )

• decreased mean cell volume

anisopoikilocytosis ( J:77852 )

• morphologic heterogeneity with many fragmented cells

spherocytosis ( J:77852 )

• spherocytic morphology

reticulocytosis ( J:77852 )

• 11% vs. 2.5% in wild-type of reticulocytes in the blood

decreased spleen iron level ( J:77852 )

• iron deposition is reduced in spleen

increased spleen red pulp amount ( J:77852 )

• red pulp areas are expanded and filled with erythroid precursor cells

immune system

enlarged spleen ( J:77852 )

• 8 to 9-fold enlargement

decreased spleen iron level ( J:77852 )

• iron deposition is reduced in spleen

increased spleen red pulp amount ( J:77852 )

• red pulp areas are expanded and filled with erythroid precursor cells

homeostasis/metabolism

decreased spleen iron level ( J:77852 )

• iron deposition is reduced in spleen

increased circulating aspartate transaminase level ( J:77852 )

• serum glutamic-oxaloacetic transaminase is elevated 2-3-fold

increased circulating creatine kinase level ( J:77852 )

• creatine phosphokinase levels are increased about 2-fold in the blood

increased kidney iron level ( J:77852 )

• extensive deposition of iron in the kidney proximal convoluted tubules

increased liver iron level ( J:77852 )

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

liver/biliary system

increased liver iron level ( J:77852 )

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

renal/urinary system

increased kidney iron level ( J:77852 )

• extensive deposition of iron in the kidney proximal convoluted tubules

growth/size/body

enlarged spleen ( J:77852 )

• 8 to 9-fold enlargement

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary elliptocytosis		DOID:2373	OMIM:130600 OMIM:611804	J:77852