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Spectrin deficient inherited hemolytic anemias in the mouse characterization by spectrin synthesis and messenger rna activity in reticulocytes

, : Spectrin deficient inherited hemolytic anemias in the mouse characterization by spectrin synthesis and messenger rna activity in reticulocytes. Cell 37(3): 721-730

Spectrin synthesis and mRNA activity were investigated in mice homozygous and heterozygous for 6 mutations occurring at 3 distinct loci (nb, ja, sph). When homozygous, these mutations cause severe hemolytic anemias that are characterized by specific spectrin deficiencies. Evidently, the primary effect of the nb mutation is a deficiency of another erythrocyte membrane skeletal protein, ankyrin. The severe deficiency of spectrin in the red blood cells of ja/ja mice is the result of a .beta. spectrin defect. Analysis of spectrin synthesis in mice homozygous and heterozygous for several alleles of sph indicates that the sph locus is the structural gene locus for .alpha. spectrin. The sph locus was mapped to mouse chromosome 1.

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