Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N13F3 (21-DEC-03)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Spherocytosis, Hereditary; HS - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Epb4.2^tm1Llp/Epb4.2^tm1Llp

        involves: 129P2/OlaHsd * C57BL/6J

• hematopoietic system phenotype
• abnormal red blood cell (MGI Ref ID J:67412)
  • homozygotes display a population of small and dehydrated RBCs in whole blood
• abnormal erythrocyte morphology (MGI Ref ID 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
  • 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
• decreased erythrocyte cell number (MGI Ref ID J:67412)
  • adult homozygotes exhibit significantly reduced RBC counts relative to wild-type mice
  • in contrast, white cell counts, platelet counts, and bleeding times remain unaffected
• decreased mean corpuscular volume (MGI Ref ID J:67412)
  • adult homozygotes exhibit a reduced MCV relative to wild-type mice
• spherocytosis (MGI Ref ID J:67412)
  • mutant RBCs display mild hereditary spherocytosis as a result of band 3 deficiency: lipid anchoring is impaired and unsupported lipids lost
• anemia (MGI Ref ID J:67412)
  • adult homozygotes are slightly anemic
• decreased hematocrit (MGI Ref ID J:67412)
  • adult homozygotes exhibit significantly reduced hematocrits relative to wild-type mice
• decreased hemoglobin content (MGI Ref ID J:67412)
  • adult homozygotes display slightly reduced hemoglobin levels relative to wild-type mice
• increased mean corpuscular hemoglobin concentration (MGI Ref ID J:67412)
  • adult homozygotes display an elevated MCHC relative to wild-type mice
• increased spleen iron level (MGI Ref ID J:67412)
  • increased accumulation of iron in the spleen, indicating RBC damage
  • no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis
• increased spleen weight (MGI Ref ID J:67412)
  • adult homozygotes show a 2-fold increase in spleen weight
• reticulocytosis (MGI Ref ID J:67412)
  • adult homozygotes exhibit a 2-fold increase in reticulocyte percentage
• homeostasis/metabolism phenotype
• abnormal ion homeostasis (MGI Ref ID J:67412)
  • mutant RBCs show altered cation content (increased K⁺/decreased Na⁺) leading to dehydration
  • 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
  • notably, cell shrinkage induces a greater activation of Na/H exchange and Na-K-2Cl cotransport in mutant RBCs
• dehydration (MGI Ref ID J:67412)
  • mutant RBCs show altered cation content (increased K⁺/decreased Na⁺) resulting in dehydration
• increased spleen iron level (MGI Ref ID J:67412)
  • increased accumulation of iron in the spleen, indicating RBC damage
  • no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis
• immune system phenotype
• increased spleen iron level (MGI Ref ID J:67412)
  • increased accumulation of iron in the spleen, indicating RBC damage
  • no iron deposition is noted in the kidney, indicating absence of intravascular hemolysis
• increased spleen weight (MGI Ref ID J:67412)
  • adult homozygotes show a 2-fold increase in spleen weight

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Epb4.2^tm1Llp related

Hematological Research
Anemia, Iron Deficiency and Transport Defects
Hematopoietic Defects

Internal/Organ Research
Spleen Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Epb4.2tm1Llp
Allele Name		targeted mutation 1, Luanne L Peters
Allele Type		Targeted (knock-out)
Common Name(s)		4.2-;
Strain of Origin		129P2/OlaHsd
ES Cell Line Name		E14
ES Cell Line Strain		129P2/OlaHsd
Gene Symbol and Name		Epb4.2, erythrocyte protein band 4.2
Chromosome		2
Gene Common Name(s)		MGC116735; MGC116737; PA;
Molecular Note		Sequence from exons 4 through 8 was deleted by the insertion of a neomycin selection cassette. Northern blot analysis of total reticulocyte RNA and RNase protection assays of nonerythroid tissue samples did not detect message encoded by the targeted allele. Protein was determined to be absent in erythroid cells from homozygous mutant mice via Western blot analysis and Coomassie blue staining. [MGI Ref ID J:67412]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Peters LL; Jindel HK; Gwynn B; Korsgren C; John KM; Lux SE; Mohandas N; Cohen CM; Cho MR; Golan DE; Brugnara C. 1999. Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice. J Clin Invest 103(11):1527-37. [PubMed: 10359562]  [MGI Ref ID J:67412]

Additional References

Epb4.2^tm1Llp related

De Franceschi L; Rivera A; Fleming MD; Honczarenko M; Peters LL; Gascard P; Mohandas N; Brugnara C. 2005. Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosis. Blood 106(4):1454-9. [PubMed: 15855279]  [MGI Ref ID J:117293]

Peters LL; Barker JE. 2001. Spontaneous and targeted mutations in erthrocyte membrane skeleton genes: mouse models of heredity spherocytosis. In: Hematopoiesis A Developmental Approach. Oxford University Press.  [MGI Ref ID J:88022]

Rivera A; De Franceschi L; Peters LL; Gascard P; Mohandas N; Brugnara C. 2006. Effect of complete protein 4.1R deficiency on ion transport properties of murine erythrocytes. Am J Physiol Cell Physiol 291(5):C880-6. [PubMed: 16774987]  [MGI Ref ID J:119870]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply	Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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