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| Nomenclature |
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Symbol:
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Slc4a1tm1Llp
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Name:
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solute carrier family 4 (anion exchanger), member 1;
targeted mutation 1, Luanne L Peters
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MGI ID: |
MGI:1857140 |
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Synonyms: |
AE1- |
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Gene:
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Slc4a1
Location:
Chr11:102348824-102366203 bp, - strand
Genetic Position: Chr11,
66.29 cM, cytoband D
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:35487
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: 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. (J:35487)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
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).
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| References |
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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
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All: |
12 reference(s)
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Analysis Tools
