Coro1akoy
Chemically induced Allele Detail
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| Symbol: |
Coro1akoy |
| Name: |
coronin, actin binding protein 1A; koyaanisqatsi |
| MGI ID: |
MGI:3818509 |
| Synonyms: |
Coro1a D278V, Koy |
| Gene: |
Coro1a Location: Chr7:126298946-126303925 bp, - strand Genetic Position: Chr7, 69.25 cM, cytoband F3
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| Alliance: |
Coro1akoy page
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| Strain of Origin: |
C57BL/6
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| Project Collection: |
APF ENU Mutagenesis
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| Allele Type: |
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Chemically induced (ENU) (Hypomorph) |
| Mutations: |
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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: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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 |
| All: |
1 reference(s) |
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Analysis Tools
