| Primary Identifier | MGI:7486439 | Allele Type | Targeted |
| Attribute String | Conditional ready, No functional change, Reporter | Gene | Acvr1 |
| Transmission | Germline | Strain of Origin | B6.Cg-Thy1<a> |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A conditional minigene enabling recombinase-mediated expression of ACVR1(R206H) was inserted in Intron 4 of the mouse Acvr1 locus. The minigene is composed of a roxp site, lox5171 site, cDNA of wildtype murine Acvr1 Exons 5-10, stop codon, polyA terminator, roxp site, F3 site, neocassette and poly A terminator, lox5171 site, and F3 site, followed by the cDNA sequence of human ACVR1 Exons 6-11 (corresponding to murine exons 5-10) with a nucleotide substitution in Exon 6 that results in the amino acid substitution of histidine for arginine at position 206 (R206H), stop codon, IRES sequence, eGFP, stop codon, and the 5' UTR of murine Acvr1. Prior to cre-mediated recombination the allele expresses wildtype murine Acvr1. Cre-mediated recombination excises murine Exons 5-10, stop codon, the 5' roxP site, both F3 sites, neocassette, and poly A sequences, leading to expression of a partially humanized ACVR1(R206H) and the eGFP reporter. The R206H point mutation mimics one identified in humans as causing Fibrodysplasia Ossificans Progressiva (FOP). Flp-mediated recombination excises the neo cassette, stop codon, and 5' lox5171 site, eliminating the possibility of cre-mediated recombination and enabling dre-mediated recombination and induction of the partially humanized ACVR1(R206H) allele and the eGFP reporter. |
