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Allele : Coro1a<ptcd> coronin, actin binding protein 1A; peripheral T cell deficiency

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.
  • mutations:
  • Nucleotide substitutions,
  • Single point mutation
  • synonyms:
  • ptcd,
  • ptcd,
  • Coro1A<E26K>,
  • Coro1A<E26K>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories