Blood, 1960, Vol. 15, No. 4, pp. 491-504.
© 1960 American Society of Hematology, Inc.
Hereditary Spherocytosis in the Deer Mouse.
Its Similarity to the Human Disease
H. ANDERSON 1,
R. R. HUESTIS 1, and
A. G. MOTULSKY 1
1 Department of Biology, University of Oregon, Eugene, Ore. and the Department of Medicine, University of Washington, Seattle, Wash.
The hematologic and pathophysiologic consequences of a mutant recessive
gene in the deer mouse produce features that are indistinguishable from
hereditary spherocytosis in man. The syndrome in the mouse was characterized
by neonatal jaundice, splenomegaly, spherocytosis and hemolytic disease which
could be abolished by splenectomy. Red cell survival was shortened when the
spleen was present and was normal or almost normal in splenectomized animals.
Affected animals had a marked increase of gallstone formation at a young age.
The intensity of neonatal jaundice as well as the tendency to gallstone formation
among affected animals appeared to be under control of genetic modifiers.
Hereditary spherocytosis in the mouse is identical pathophysiologically with
the human syndrome, although inherited as a recessive trait. Biochemical
heterogeneity and dominance modification are discussed as possible explanations for this genetic discrepancy.
Submitted on May 21, 1959
Accepted on July 13, 1959
