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Blood, 15 January 2001, Vol. 97, No. 2, pp. 543-550
RED CELLS
Defective spectrin integrity and neonatal thrombosis in the first
mouse model for severe hereditary elliptocytosis
Nancy J. Wandersee,
Amanda
N. Roesch,
Nancy R. Hamblen,
Joost de Moes,
Martin A. van der Valk,
Roderick T. Bronson,
J.
Aura Gimm,
Narla Mohandas,
Peter Demant, and
Jane E. Barker
From The Jackson Laboratory, Bar Harbor, ME; the
Lawrence Berkeley National Laboratory, University of
California-Berkeley, Berkeley, CA; the Division of Molecular Genetics,
The Netherlands Cancer Institute, Amsterdam, The Netherlands; and
Tufts University School of Veterinary Medicine, Boston, MA.
Mutations affecting the conversion of spectrin dimers to tetramers
result in hereditary elliptocytosis (HE), whereas a deficiency of
human erythroid  - or  -spectrin results in hereditary
spherocytosis (HS). All spontaneous mutant mice with cytoskeletal
deficiencies of spectrin reported to date have HS. Here, the first
spontaneous mouse mutant,
sphDem/ sphDem, with severe HE is
described. The sphDem mutation is the
insertion of an intracisternal A particle element in intron 10 of
the erythroid -spectrin gene. This causes exon skipping, the
in-frame deletion of 46 amino acids from repeat 5 of -spectrin
and alters spectrin dimer/tetramer stability and osmotic fragility. The
disease is more severe in
sphDem/sphDem neonates
than in -spectrin-deficient mice with HS. Thrombosis and infarction
are not, as in the HS mice, limited to adults but occur soon after
birth. Genetic background differences that exist between HE and HS mice
are suspect, along with red blood cell morphology differences, as
modifiers of thrombosis timing.
sphDem/sphDem mice provide a
unique model for analyzing spectrin dimer- to-tetramer conversion and identifying factors that influence thrombosis.
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