Mice homozygous for this spontaneous mutation exhibit severe hemolytic anemia and provide a model for hereditary spherocytosis and hereditary elliptocytosis.
Dr. Luanne Peters, The Jackson Laboratory
Mice homozygous for the spherocytosis 3 Jackson mutation provide a model for hereditary spherocytosis and hereditary elliptocytosis. Homozygotes have severe hemolytic anemia with significantly lower red blood cell count, hemoglobin, and hematocrit, and very high reticulocyte counts. Red blood cell smears show microcytosis, spherocytosis, polychromatophilia, poikilocytosis and frequent irregular sphero-elliptocytes. The mean cell volume of red blood cells is not significantly increased. There is elevated bilirubin, iron accumulation is found in the kidney and liver, but iron is depleted from the spleen, where splenomegaly results from the expansion of red pulp. Extramedullary hematopoietic foci are found in the liver.
The spherocytosis 3 Jackson mutation arose spontaneously in 2001 on the inbred NOD/ShiLtJ background at The Jackson Laboratory and was backcrossed onto the NOD.B10Sn-H2b/J strain (Stock No. 002591) and was then backcrossed onto C57BL/6J in the laboratory of Dr. Luanne Peters. Sperm was cryopreserved from heterozygous males at generation N10.
|Allele Name||spherocytosis 3 Jackson|
|Gene Symbol and Name||Spta1, spectrin alpha, erythrocytic 1|
|Strain of Origin||NOD/ShiLtJ|
|Molecular Note||The mutation is a C-to-T transition in exon 43 that results in substitution of histidine with tyrosine at amino acid position 2012 (p.H2012Y).|