Coro1a^ptcd
Spontaneous Allele Detail

Summary

• Symbol: Coro1a^ptcd
• Name: coronin, actin binding protein 1A; peripheral T cell deficiency
• MGI ID: MGI:3818503
• Synonyms: Coro1A^E26K, ptcd
• Gene: Coro1a Location: Chr7:126298946-126303925 bp, - strand Genetic Position: Chr7, 69.25 cM, cytoband F3
• Alliance: Coro1a^ptcd page

Mutation origin

• Strain of Origin: CTS

Mutation description

• Allele Type: Spontaneous
• Mutations: Nucleotide substitutions, Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Coro1a Mutation: 25 strains or lines available

Notes

This mutation arose spontaneously in the inbred CTS mouse strain that also carries the Cts allele associated with cataracts and microphthalmia.

References

• Original: J:45972 Kimura S, et al., Genetic control of peripheral T-cell deficiency in the cataract Shionogi (CTS) mouse linked to chromosome 7. Immunogenetics. 1998;47(3):278-80
• All: 4 reference(s)