Log In|Sign Up
EN
An arginine to glutamic acid (R120E) mutation was inserted in exon 3 and a floxed neo cassette was inserted in intron 4 via homologous recombination. Cre-mediated recombination removed the neo cassette. The exon 3 mutation changes a conserved positively charged amino acid in the first ligand binding domain to a negatively charged amino acid. The mutant protein shows surface expression in B-cells similar to wild-type protein but fails to bind ligand. (J:265415)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
