Ank2^em1Melr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ank2^em1Melr
• Name: ankyrin 2, brain; endonuclease-mediated mutation 1, Mona El Refaey
• MGI ID: MGI:7513830
• Synonyms: AnkBp.E1458G⁺, E1458G⁺
• Gene: Ank2 Location: Chr3:126715261-127292999 bp, - strand Genetic Position: Chr3, 56.07 cM
• Alliance: Ank2^em1Melr page

Mutation origin

• Strain of Origin: C57BL/6J x SJL/J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a GAA to GGC change resulting in a glutamic acid to glycine substitution at amino acid 1371 (p.E1371G) in the spectrin-binding domain. Multiple silent coding changes were also introduced to block the Cas9 targets. This corresponds to the human p.E1458G variant associated with arrhythmias and structural remodeling. (J:338515)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ank2 Mutation: 185 strains or lines available

References

• Original: J:338515 Wallace MJ, et al., Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant. J Biol Chem. 2023 Jun;299(6):104818
• All: 1 reference(s)