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Phenotypes Associated with This Genotype
Genotype
MGI:2449964
Allelic
Composition
Epb42tm1Llp/Epb42tm1Llp
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epb42tm1Llp mutation (1 available); any Epb42 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• adult homozygotes are slightly anemic (J:67412)
• adult homozygotes are slightly anemic (J:67412)
• mutant RBCs show loss of membrane surface, as shown by significantly reduced osmotic deformability indices; in contrast, the membrane skeleton architecture is intact, and the spectrin and ankyrin content of RBCs is unaffected (J:67412)
• mutant RBCs show a 30% reduction in band 3 content, a ~40% decrease in net DIDS-sensitive sulfate influx, as well as loss and clustering of intramembranous particles (J:67412)
• homozygotes display a population of small and dehydrated RBCs in whole blood (J:67412)
• mutant RBCs show loss of membrane surface, as shown by significantly reduced osmotic deformability indices; in contrast, the membrane skeleton architecture is intact, and the spectrin and ankyrin content of RBCs is unaffected (J:67412)
• mutant RBCs show a 30% reduction in band 3 content, a ~40% decrease in net DIDS-sensitive sulfate influx, as well as loss and clustering of intramembranous particles (J:67412)
• homozygotes display a population of small and dehydrated RBCs in whole blood (J:67412)
• adult homozygotes exhibit significantly reduced RBC counts relative to wild-type mice (J:67412)
• in contrast, white cell counts, platelet counts, and bleeding times remain unaffected (J:67412)
• adult homozygotes exhibit significantly reduced RBC counts relative to wild-type mice (J:67412)
• in contrast, white cell counts, platelet counts, and bleeding times remain unaffected (J:67412)
• adult homozygotes exhibit significantly reduced hematocrits relative to wild-type mice (J:67412)
• adult homozygotes exhibit significantly reduced hematocrits relative to wild-type mice (J:67412)
• adult homozygotes display slightly reduced hemoglobin levels relative to wild-type mice (J:67412)
• adult homozygotes display slightly reduced hemoglobin levels relative to wild-type mice (J:67412)
• adult homozygotes display an elevated MCHC relative to wild-type mice (J:67412)
• adult homozygotes display an elevated MCHC relative to wild-type mice (J:67412)
• adult homozygotes exhibit a reduced MCV relative to wild-type mice (J:67412)
• adult homozygotes exhibit a reduced MCV relative to wild-type mice (J:67412)
• mutant RBCs display mild hereditary spherocytosis as a result of band 3 deficiency: lipid anchoring is impaired and unsupported lipids lost (J:67412)
• mutant RBCs display mild hereditary spherocytosis as a result of band 3 deficiency: lipid anchoring is impaired and unsupported lipids lost (J:67412)
• adult homozygotes exhibit a 2-fold increase in reticulocyte percentage (J:67412)
• adult homozygotes exhibit a 2-fold increase in reticulocyte percentage (J:67412)
• increased accumulation of iron in the spleen, indicating RBC damage (J:67412)
• no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis (J:67412)
• increased accumulation of iron in the spleen, indicating RBC damage (J:67412)
• no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis (J:67412)
• adult homozygotes show a 2-fold increase in spleen weight (J:67412)
• adult homozygotes show a 2-fold increase in spleen weight (J:67412)

homeostasis/metabolism
• mutant RBCs show altered cation content (increased K+/decreased Na+) resulting in dehydration (J:67412)
• mutant RBCs show altered cation content (increased K+/decreased Na+) resulting in dehydration (J:67412)
• mutant RBCs show altered cation content (increased K+/decreased Na+) leading to dehydration (J:67412)
• passive Na+ permeability and the activities of the Na-K-2Cl and K-Cl cotransporters, the Na/H exchanger, and the Gardos channel are significantly increased; increased passive Na+ permeability is dependent on cell shrinkage (J:67412)
• notably, cell shrinkage induces a greater activation of Na/H exchange and Na-K-2Cl cotransport in mutant RBCs (J:67412)
• mutant RBCs show altered cation content (increased K+/decreased Na+) leading to dehydration (J:67412)
• passive Na+ permeability and the activities of the Na-K-2Cl and K-Cl cotransporters, the Na/H exchanger, and the Gardos channel are significantly increased; increased passive Na+ permeability is dependent on cell shrinkage (J:67412)
• notably, cell shrinkage induces a greater activation of Na/H exchange and Na-K-2Cl cotransport in mutant RBCs (J:67412)
• increased accumulation of iron in the spleen, indicating RBC damage (J:67412)
• no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis (J:67412)
• increased accumulation of iron in the spleen, indicating RBC damage (J:67412)
• no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis (J:67412)

immune system
• increased accumulation of iron in the spleen, indicating RBC damage (J:67412)
• no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis (J:67412)
• increased accumulation of iron in the spleen, indicating RBC damage (J:67412)
• no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis (J:67412)
• adult homozygotes show a 2-fold increase in spleen weight (J:67412)
• adult homozygotes show a 2-fold increase in spleen weight (J:67412)

Mouse Models of Human Disease
OMIM ID Ref(s)
Spherocytosis, Type 1; SPH1 182900 J:67412


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory