|  Help  |  About  |  Contact Us

Allele : Ank2<em1Melr> ankyrin 2, brain; endonuclease-mediated mutation 1, Mona El Refaey

Primary Identifier  MGI:7513830 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ank2
Strain of Origin  C57BL/6J x SJL/J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • E1458G<+>,
  • AnkBp.E1458G<+>,
  • AnkBp.E1458G<+>,
  • E1458G<+>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories