|  Help  |  About  |  Contact Us

Allele : Fxn<em10Lutzy> frataxin; endonuclease-mediated mutation 10, Cathy Lutz

Primary Identifier  MGI:7316637 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Fxn
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 genome editing using guide RNAs [AGACCCCAAACAAGCAAATC; ACAGCCAGATTTGCTTGTTT; and CAGCCAGATTTGCTTGTTTG] selected to target exon 4. Donor DNAs were created encoding an I151F point mutation (ATC to TTC) and a T146T silent mutation (ACC to ACT), which was introduced to destroy the PAM recognition site. Fxn transcript Fxn-201 is used as reference for the exon numbering and the guide/donor sequences. The I151F point mutation corresponds to the human I154F mutation associated with Friedreich's Ataxia.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Fxn<em10(T146T,I151F)>,
  • FXN<I151F>,
  • FXN<I151F>,
  • Fxn<em10(T146T,I151F)>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele