These mice show severe hemolytic anemia with 85% homozygotes dying before weaning. Surviving homozygous adult Slc4a1tm1Llp mice are smaller than their normal littermates and spleens are more than 15 times the size of
normal littermate spleens. Red blood cells from homozygous mice show severe spherocytosis and hemolysis, but have an intact membrane skeleton.
|Allele Name||targeted mutation 1, Luanne L Peters|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Slc4a1, solute carrier family 4 (anion exchanger), member 1|
|Strain of Origin||129S4/SvJae|
|General Note||In homozygotes for this and other targeted null mutations of the AE1 gene, severe spherocytosis and hemolysis (J:35487, J:35637) result from loss of erythrocyte membrane components, but the membrane skeleton is intact. Glycophorin A, the major transmembrane sialoglycoprotein of the erythrocyte, contributes to the expression of blood group antigens, and serves other erythrocyte membrane functions. It is never incorporated into red blood cell membranes of null mutant homozygotes (J:46738).|
|Molecular Note||Sequence from the within the 3' region of exon 9 to the middle of exon 11 was replaced with a neomycin selection cassette. An absence of transcript was determined by Northern blot analysis of reticulocyte RNA derived from newborns and fetal liver RNA, both obtained from homozygous mutant mice. Western analysis and immunohistochemical analysis showed an absence of the encoded protein in homozygous mutant animals.|
|Mutations Made By|| |
Dr. Luanne Peters, The Jackson Laboratory
~85% of homozygous mice for this mutation die before weaning (severe hemolytic anemia). When maintaining a live colony, heterozygous mice may be bred together or to wildtype mice from the colony.
When using the AE1- mouse strain in a publication, please cite the originating article(s) and include JAX stock #002832 in your Materials and Methods section.