Acvr1^tm1Dper
Targeted Allele Detail

Summary

• Symbol: Acvr1^tm1Dper
• Name: activin A receptor, type 1; targeted mutation 1, Daniel Perrien
• MGI ID: MGI:7486439
• Synonyms: Acvr1^huR206H-fl, Acvr1^R206H-fl, Acvr1^R206H-flox, Acvr1^R206H_mg
• Gene: Acvr1 Location: Chr2:58336450-58456840 bp, - strand Genetic Position: Chr2, 33.05 cM
• Alliance: Acvr1^tm1Dper page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:336074
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change, Reporter)
• Mutation: Insertion
• Mutation details: 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. (J:336074)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Acvr1 Mutation: 43 strains or lines available

References

• Original: J:336074 Lyu H, et al., MyD88 Is Not Required for Muscle Injury-Induced Endochondral Heterotopic Ossification in a Mouse Model of Fibrodysplasia Ossificans Progressiva. Biomedicines. 2021;9(6):630
• All: 3 reference(s)