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Chemically induced Allele Detail
Symbol: Coro1akoy
Name: coronin, actin binding protein 1A; koyaanisqatsi
MGI ID: MGI:3818509
Synonyms: Coro1a D278V, Koy
Gene: Coro1a  Location: Chr7:126699773-126707787 bp, - strand  Genetic Position: Chr7, 69.25 cM, cytoband F3
Strain of Origin:  C57BL/6
Project Collection: APF ENU Mutagenesis
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutations:    Nucleotide substitutions, Single point mutation
Mutation detailsAn 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)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Coro1a Mutation:  14 strains or lines available
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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MGI 6.12
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