Actn2^em1Kage
Endonuclease-mediated Allele Detail

Summary

• Symbol: Actn2^em1Kage
• Name: actinin alpha 2; endonuclease-mediated mutation 1, Katja Gehmlich
• MGI ID: MGI:7482516
• Synonyms: Actn2 p.Met228Thr
• Gene: Actn2 Location: Chr13:12284312-12355613 bp, - strand Genetic Position: Chr13, 4.54 cM
• Alliance: Actn2^em1Kage page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:334092
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a methionine to threonine substitution at amino acid 228 (p.M228T). Three silent base pair changes were also introduced to create an Hgal restriction site for genotyping. p.M228T is a missense variant identified in the actin-binding domain in patients with hypertrophic cardiomyopathy. (J:334092)

Expression

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 Actn2 Mutation: 58 strains or lines available

References

• Original: J:334092 Broadway-Stringer S, et al., Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2. Cells. 2023 Feb 24;12(5)
• All: 1 reference(s)