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| Nomenclature |
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Symbol:
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Coro1aptcd
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Name:
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coronin, actin binding protein 1A;
peripheral T cell deficiency
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MGI ID: |
MGI:3818503 |
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Synonyms: |
Coro1AE26K, ptcd |
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Gene:
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Coro1a
Location:
Chr7:126699773-126707787 bp, - strand
Genetic Position: Chr7,
69.25 cM, cytoband F3
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Nucleotide substitutions, Single point mutation |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Coro1a Mutation:
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2 strains or lines available |
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Notes |
This mutation arose spontaneously in the inbred CTS mouse strain that also carries the Cts allele associated with cataracts and microphthalmia.
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
