Acta2^tm1.1Dmmz
Targeted Allele Detail

Summary

• Symbol: Acta2^tm1.1Dmmz
• Name: actin alpha 2, smooth muscle, aorta; targeted mutation 1.1, Dianna M Milewicz
• MGI ID: MGI:8250493
• Synonyms: Acta2^R179C-flox
• Gene: Acta2 Location: Chr19:34218490-34232990 bp, - strand Genetic Position: Chr19, 29.41 cM, cytoband C3
• Alliance: Acta2^tm1.1Dmmz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:369814
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A vector for stable inversion mediated by cre-recombinase was created in which mutant exons 5-6 containing a C to T change at position 535 (c.535C>T) resulting in an arginine to cystine substitution at amino acid 179 (p.R179C) in exon 6 were inserted into intron 6 in reverse orientation. The wild-type and mutant exons 5-6 were flanked by loxP sites and the mutant exons only were flanked by lox2272 sites. Backcrossing mice containing a neomycin selection gene resulted in deletion of the neomycin gene. With exposure to cre recombinase, one pair of lox sites inverts the mutant cassette and then the second pair excises the wild-type exons. (J:369814, J:369813)

Expression

In Structures Affected by this Mutation:

3 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 Acta2 Mutation: 56 strains or lines available

Notes

Conditional heterozygous mice in J:369814 are not a disease model for smooth muscle dysfunction syndrome.

References

• Original: J:369814 Kaw A, et al., Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies. J Mol Cell Cardiol. 2022 Oct;171:102-104
• All: 2 reference(s)