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| Nomenclature |
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Symbol:
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Coro1akoy
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Name:
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coronin, actin binding protein 1A;
koyaanisqatsi
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MGI ID: |
MGI:3818509 |
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Synonyms: |
Coro1a D278V, Koy |
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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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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutations: | |
Nucleotide substitutions, Single point mutation |
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Mutation details: An A-to-T substitution in exon 7 of Coro1a in the gene locus resulted in an aspartic acid-to-valine substitution at residue 278. This residue is located at a contact surface predicted to be critical for the proper assembly and stability of the protein. Immunoblot analysis of total thymocytes showed that mutant cells had roughly one tenth as much protein as wild-type cells. This allele is considered to be a hypomorph allele. (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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| References |
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Original: |
J:141431
Shiow LR et al.,
"The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency."
Nat Immunol 2008 Nov;9(11):1307-15
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All: |
1 reference(s)
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Analysis Tools
