Rodents With Conditional ACVR1 Mutant Alleles
AssigneeRegeneron Pharmaceuticals, Inc.
InventorsAris N. Economides, Sarah Jane Hatsell
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AssigneeRegeneron Pharmaceuticals, Inc.
InventorsAris N. Economides, Sarah Jane Hatsell
Estimating the term…
A genetically modified mouse is provided that comprises a conditional Acvr1 allele that comprises a mutated exon that, upon induction, converts to a mutant exon phenotype, wherein the mutant exon phenotype includes ectopic bone formation. Mice comprising a mutant Acvr1 exon 5 in antisense orientation, flanked by site-specific recombinase recognition sites, are provided, wherein the mice further comprise a site-specific recombinase that recognizes the site-specific recombinase recognitions sites, wherein the recombinase is induced upon exposure of the mouse to tamoxifen. Upon exposure to tamoxifen, the recombinase is expressed and acts on the RRS-flanked mutant exon 5 and places the mutant exon 5 in sense orientation and deletes the wild-type exon.
1-7. (canceled)
A rodent genome, comprising a chromosome 2 modified to comprise a modified Activin A receptor type 1 (Acvr1) gene comprising a functioning Acvr1 gene exon 5 flanked upstream and downstream by a first pair of site-specific recombinase recognition sites that directs recombinase-mediated deletion of the functioning Acvr1 gene exon 5, and a mutant exon 5 of a rodent Acvr1 gene, in antisense orientation and encoding an R206H variation, flanked upstream and downstream by a second pair of site-specific recombinase recognition sites that directs recombinase-mediated inversion of the mutant exon 5 into sense orientation.
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