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Targeted Allele Detail
Symbol: Slc4a1tm1Llp
Name: solute carrier family 4 (anion exchanger), member 1; targeted mutation 1, Luanne L Peters
MGI ID: MGI:1857140
Synonyms: AE1-
Gene: Slc4a1  Location: Chr11:102348824-102366203 bp, - strand  Genetic Position: Chr11, 66.29 cM, cytoband D
Germline Transmission:  Earliest citation of germline transmission: J:35487
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsSequence 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. (J:35487)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Slc4a1 Mutation:  6 strains or lines available
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).

Original:  J:35487 Peters LL, et al., Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell. 1996 Sep 20;86(6):917-27
All:  12 reference(s)

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last database update
MGI 6.01
The Jackson Laboratory