Primary Identifier | MGI:3818503 | Allele Type | Spontaneous |
Gene | Coro1a | Inheritance Mode | Recessive |
Strain of Origin | CTS | Is Recombinase | false |
Is Wild Type | false |
description | This mutation arose spontaneously in the inbred CTS mouse strain that also carries the Cts allele associated with cataracts and microphthalmia. |
molecularNote | 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. |