|  Help  |  About  |  Contact Us

Allele : Slc4a1<tm1Llp> solute carrier family 4 (anion exchanger), member 1; targeted mutation 1, Luanne L Peters

Primary Identifier  MGI:1857140 Allele Type  Targeted
Attribute String  Null/knockout Gene  Slc4a1
Transmission  Germline Strain of Origin  129S4/SvJae
Is Recombinase  false Is Wild Type  false
description  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).
molecularNote  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:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • AE1<->,
  • AE1<->
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

15 Publication categories