Acvr1^tm2.1Vlcg
Targeted Allele Detail

Summary

• Symbol: Acvr1^tm2.1Vlcg
• Name: activin A receptor, type 1; targeted mutation 2.1, Velocigene
• MGI ID: MGI:5763014
• Synonyms: Acvr1^[R206H]FlEx
• Gene: Acvr1 Location: Chr2:58336450-58456840 bp, - strand Genetic Position: Chr2, 33.05 cM
• Alliance: Acvr1^tm2.1Vlcg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234069
• Parent Cell Line: VGB6 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 5 and associated intronic sequence is replaced with a loxP site, the corresponding wild-type human exon 5 and associated intronic sequence, Lox2372 site, inverted exon 5 with a nucleotide substitution that results in the amino acid substitution of histidine for arginine at position 206 (R206H), loxP site, a small insert derived from rabbit hemoglobin beta intron 2, lox2372 site and FRT-flanked neomycin resistance cassette. Flp-mediated recombination removed the selection cassette. The R206H point mutation mimics one identified in humans as causing Fibrodysplasia Ossificans Progressiva (FOP). Prior to cre-mediated half of its transcripts lacked exon 5 resulting in a hypomorphic allele. (J:234069)

Disease models

Expression

In Mice Carrying this Mutation:	50 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

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:234069 Hatsell SJ, et al., ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A. Sci Transl Med. 2015 Sep 2;7(303):303ra137
• All: 8 reference(s)