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Allele : Cftr<em3Cwr> cystic fibrosis transmembrane conductance regulator; endonuclease-mediated mutation 3, Case Western Reserve University

Primary Identifier  MGI:6192450 Allele Type  Endonuclease-mediated
Attribute String  Hypomorph Gene  Cftr
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology introduced a G to T mutation, changing the glycine at amino acid 542 to a stop codon (G542X), resulting in the most common missense mutation seen in cystic fibrosis. A silent T to C mutation was also inserted. qRT-PCR indicates reduced expression levels. Treating mice with the aminoglycoside G418, a suppressor of nonsense mutations, results in an increase in Cftr mRNA.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • G542X,
  • G542X
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

9 Publication categories