B6.NOD(Cg)-Spta1^sph-3J/LlpJ

Stock number: 007875
Product name: spherocytosis 3 Jackson
Research areas: Hematological Research

Description

Mice homozygous for this spontaneous mutation exhibit severe hemolytic anemia and provide a model for hereditary spherocytosis and hereditary elliptocytosis.

Detailed description

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.

Development

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-H2^b/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

Symbol: Spta1^sph-3J
Name: spherocytosis 3 Jackson
MGI accession ID: MGI:3621484
Generation method: Spontaneous
Marker symbol: Spta1
Marker name: spectrin alpha, erythrocytic 1
Marker synonyms: EL2; erythroid; HPP; HS3; ihj; SPH3; Spna1; Spna-1; SPTA
Chromosome: 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).