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Spontaneous Allele Detail
Symbol: Coro1aptcd
Name: coronin, actin binding protein 1A; peripheral T cell deficiency
MGI ID: MGI:3818503
Synonyms: Coro1AE26K, ptcd
Gene: Coro1a  Location: Chr7:126699773-126707787 bp, - strand  Genetic Position: Chr7, 69.25 cM, cytoband F3
Strain of Origin:  CTS
Allele Type:    Spontaneous
Mutations:    Nucleotide substitutions, Single point mutation
Mutation detailsG-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
View phenotypes and curated references for all genotypes (concatenated display).
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:  14 strains or lines available
This mutation arose spontaneously in the inbred CTS mouse strain that also carries the Cts allele associated with cataracts and microphthalmia.
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory