Acvr1^tm1Emsh
Targeted Allele Detail

Summary

• Symbol: Acvr1^tm1Emsh
• Name: activin A receptor, type 1; targeted mutation 1, Eileen M Shore
• MGI ID: MGI:5471642
• Synonyms: Acvr1^R206H
• Gene: Acvr1 Location: Chr2:58336450-58456840 bp, - strand Genetic Position: Chr2, 33.05 cM
• Alliance: Acvr1^tm1Emsh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:194134
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutation (CGC to CAC) results in the amino acid substitution of histidine for arginine at position 206 (R206H). An FRT-flanked neo cassette was inserted downstream of the modified exon 5. (J:194134)

Disease models

Expression

In Structures Affected by this Mutation:

10 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

Notes

Chimeras analyzed in J:194134 contain 70% to 90% mutant cells.

References

• Original: J:194134 Chakkalakal SA, et al., An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. J Bone Miner Res. 2012 Aug;27(8):1746-56
• All: 3 reference(s)