Acvr1^tm1Mak
Targeted Allele Detail

Summary

• Symbol: Acvr1^tm1Mak
• Name: activin A receptor, type 1; targeted mutation 1, Tak W Mak
• MGI ID: MGI:6414907
• Synonyms: Acvr1^floxG328V
• Gene: Acvr1 Location: Chr2:58336450-58456840 bp, - strand Genetic Position: Chr2, 33.05 cM
• Alliance: Acvr1^tm1Mak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285841
• Parent Cell Line: E14K (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to T change resulting in a glycine to valine substitution at amino acid 328 was introduced in exon 8. In addition, a loxP-flanked STOP cassette and an FRT-flanked neomycin resistance cassette was inserted in intron 7. (J:285841)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:285841 Fortin J, et al., Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas. Cancer Cell. 2020 Mar 16;37(3):308-323.e12
• All: 1 reference(s)