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Gene Review

Sptb  -  spectrin beta, erythrocytic

Mus musculus

Synonyms: AI842465, Beta-I spectrin, D330027P03Rik, Gm1301, LOC383567, ...
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Disease relevance of Spnb1


High impact information on Spnb1


Biological context of Spnb1

  • The peak LOD score was obtained with a marker for Spnb1 encoding erythroid beta-spectrin, an obvious candidate gene [8].
  • Complete nucleotide sequence of the murine erythroid beta-spectrin cDNA and tissue-specific expression in normal and jaundiced mice [9].
  • Transfection of the FLAG epitope tagged wild-type beta I sigma 2 or Providence beta I sigma 2 cDNA constructs into C2C12 myoblasts demonstrated by sedimentation velocity analysis that spectrin beta I sigma 2 Providence formed alpha II/-beta I sigma 2 heterodimers in muscle cells but not heterotetramers [10].
  • The recipient acquired the blood phenotype of the primary ja/ja host [2].
  • The treatment significantly increased red cell counts and extended the average lifespan to 5 months beyond that previously reported for ja/ja mice transfused at birth [2].

Anatomical context of Spnb1

  • Steady state levels of the mutant transcripts are reduced when hybridized with a probe to repeats 2 through 6 with the exception of the 7.2-kb transcript that is unique to heart and skeletal muscle tissues, and is present at normal and elevated levels, respectively, in ja/ja mice [9].
  • As a prerequisite for determining the molecular defect of the jaundiced mutation, we have cloned and sequenced the complete murine reticulocyte cDNA for normal Spnb-1 [9].
  • Myofibers of mutant mice lacking beta-spectrin (ja/ja) have a more uniform distribution of both the alpha1 and alpha2 subunits of the Na,K-ATPase in the sarcolemma, supporting the idea that the rectilinear sarcomeric pattern assumed by the Na,K-ATPase in wild-type muscle requires beta-spectrin [11].
  • The results indicate donor stem cells (a) prolong life in the jaundiced mice, but (b) do not survive long-term when injected into newborn mice [2].
  • The presence of an activated state of macrophages in jaundiced mice was concluded from the observed high spontaneous cytokine release and significantly higher release after stimulation (p less than 0.05) [3].

Associations of Spnb1 with chemical compounds


Other interactions of Spnb1


Analytical, diagnostic and therapeutic context of Spnb1


  1. Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Kaysser, T.M., Wandersee, N.J., Bronson, R.T., Barker, J.E. Blood (1997) [Pubmed]
  2. Multiple high cell dose injections of normal marrow into newborn jaundiced mice dramatically prolong life despite transient repopulation. Barker, J.E., Kaysser-Kranich, T.M., Hamblen, N., Deveau, S. Exp. Hematol. (1999) [Pubmed]
  3. Cytokines tumor necrosis factor and interleukin-6 in experimental biliary obstruction in mice. Bemelmans, M.H., Gouma, D.J., Greve, J.W., Buurman, W.A. Hepatology (1992) [Pubmed]
  4. Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. Bodine, D.M., Birkenmeier, C.S., Barker, J.E. Cell (1984) [Pubmed]
  5. Bilirubin protects astrocytes from its own toxicity by inducing up-regulation and translocation of multidrug resistance-associated protein 1 (Mrp1). Gennuso, F., Fernetti, C., Tirolo, C., Testa, N., L'Episcopo, F., Caniglia, S., Morale, M.C., Ostrow, J.D., Pascolo, L., Tiribelli, C., Marchetti, B. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  6. The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin. Bloom, M.L., Kaysser, T.M., Birkenmeier, C.S., Barker, J.E. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  7. Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man. Birkenmeier, C.S., McFarland-Starr, E.C., Barker, J.E. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  8. Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency. Peters, L.L., Swearingen, R.A., Andersen, S.G., Gwynn, B., Lambert, A.J., Li, R., Lux, S.E., Churchill, G.A. Blood (2004) [Pubmed]
  9. Complete nucleotide sequence of the murine erythroid beta-spectrin cDNA and tissue-specific expression in normal and jaundiced mice. Bloom, M.L., Birkenmeier, C.S., Barker, J.E. Blood (1993) [Pubmed]
  10. The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle. Weed, S.A., Stabach, P.R., Oyer, C.E., Gallagher, P.G., Morrow, J.S. Lab. Invest. (1996) [Pubmed]
  11. Na,K-ATPase in skeletal muscle: two populations of beta-spectrin control localization in the sarcolemma but not partitioning between the sarcolemma and the transverse tubules. Williams, M.W., Resneck, W.G., Kaysser, T., Ursitti, J.A., Birkenmeier, C.S., Barker, J.E., Bloch, R.J. J. Cell. Sci. (2001) [Pubmed]
  12. New mutation causing jaundice in mice. Saxton, A.M., Eisen, E.J., Johnson, B.H., Burkhart, J.G. J. Hered. (1985) [Pubmed]
  13. Jaundiced Gunn rats have increased synaptic delays in the ventral cochlear nucleus. Zhang, S., Wickesberg, R.E., Oertel, D. Brain Res. (1989) [Pubmed]
  14. Experimental bile-duct ligation resulted in accumulation of oxidized low-density lipoproteins in BALB/c mice liver. Cömert, M., Tekin, I.O., Acikgöz, S., Ustündağ, Y., Uçan, B.H., Acun, Z., Barut, F., Sümbüloğlu, V. J. Gastroenterol. Hepatol. (2004) [Pubmed]
  15. Molecular extensibility of mini-dystrophins and a dystrophin rod construct. Bhasin, N., Law, R., Liao, G., Safer, D., Ellmer, J., Discher, B.M., Sweeney, H.L., Discher, D.E. J. Mol. Biol. (2005) [Pubmed]
  16. Studies on a cerebellar 50,000-dalton protein associated with cerebellar hypoplasia in jaundiced Gunn rats: its identity with glial fibrillary acidic protein as evidenced by the improved immunoblotting method. Aono, S., Sato, H., Semba, R., Kashiwamata, S., Eng, L.F. J. Neurochem. (1985) [Pubmed]
  17. Amelioration of severe hereditary spherocytosis in nonablated adult mice by marrow transplantation. Barker, J.E., Deveau, S., Wandersee, N.J. Exp. Hematol. (2000) [Pubmed]
  18. Cells, bilirubin and light: formation of bilirubin photoproducts and cellular damage at defined wavelengths. Christensen, T., Kinn, G., Granli, T., Amundsen, I. Acta Paediatr. (1994) [Pubmed]
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