Acvr1^tm1Glh
Targeted Allele Detail

Summary

• Symbol: Acvr1^tm1Glh
• Name: activin A receptor, type 1; targeted mutation 1, David J Goldhamer
• MGI ID: MGI:6140231
• Synonyms: Acvr1^tnR206H
• Gene: Acvr1 Location: Chr2:58336450-58456840 bp, - strand Genetic Position: Chr2, 33.05 cM
• Alliance: Acvr1^tm1Glh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:257905
• Parent Cell Line: D1 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 5 was replaced with a mutated exon containing an arginine to histidine change at position 206 (R206H) in the glycine-serine-rich domain seen in patients with fibrodysplasia ossificans progressiva. A loxP-flanked CAG- tdTomato-T2A-Neo stop cassette was inserted in intron 4. (J:257905)

Disease models

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: 44 strains or lines available

References

• Original: J:257905 Lees-Shepard JB, et al., Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva. Nat Commun. 2018 Feb 2;9(1):471
• All: 6 reference(s)