Cftr^em3Cwr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cftr^em3Cwr
• Name: cystic fibrosis transmembrane conductance regulator; endonuclease-mediated mutation 3, Case Western Reserve University
• MGI ID: MGI:6192450
• Synonyms: G542X
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^em3Cwr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:262928)

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 Cftr Mutation: 98 strains or lines available

References

• Original: J:262928 McHugh DR, et al., A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. PLoS One. 2018;13(6):e0199573
• All: 3 reference(s)