G-to-A spontaneous mutation in exon 2 of the gene locus resulted in a non-conservative glutamic acid-to-lysine substitution at residue 26 in the beta-propeller domain of the protein. This residue was in a surface-exposed loop12 adjacent to a region that in the related protein Coro1B has been indicated to be an actin-binding site. The mutant protein was found to not localize to the leading edge of migrating T cells in the manner that the endogenous protein does. Immunoblot analysis showed that the abundance of the mutant protein in homozygote thymocytes was similar to the endogenous protein in wild-type controls. (J:141431)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CTS
Spontaneous
Nucleotide substitutions, Single point
Recessive
1
1
4

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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top