Ank2^em1Bnt
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ank2^em1Bnt
• Name: ankyrin 2, brain; endonuclease-mediated mutation 1, Vann Bennett
• MGI ID: MGI:6784038
• Synonyms: Abe37fs, Abe^P2580fs
• Gene: Ank2 Location: Chr3:126715261-127292999 bp, - strand Genetic Position: Chr3, 56.07 cM
• Alliance: Ank2^em1Bnt page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR-targeting of exon 37 induces an indel mutation the results in a frameshift mimicking the human variant at amino acid 2608 (R2608fs), which causes a frameshift mutation in exon 37. The allele fails to produced the 440-kDa isoform but expresses a truncated 290-kDa polypeptide and normal levels of 220-kDa isoform. (J:277752)

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 Ank2 Mutation: 185 strains or lines available

References

• Original: J:277752 Yang R, et al., ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity. Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):15262-15271
• All: 3 reference(s)