Cftr^{tm1.1(R553*)Ics}
Targeted Allele Detail

Summary

• Symbol: Cftr^{tm1.1(R553*)Ics}
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:8280657
• Synonyms: CFTR-NS
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^{tm1.1(R553*)Ics} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:378320
• Parent Cell Line: S3 (ES Cell)
• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Arginine codon 553 (CGT) in exon 12 (GRCm39, Cftr-201) was changed to a stop codon (TGA) (p.R553*) and a loxP site flanked auto-excision cassette, containing a protamin promoter-driven cre gene plus a neomycin resistance gene, was inserted into intron 12. (J:378320)

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:378320 Leroy C, et al., Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis. Mol Ther. 2023 Apr 5;31(4):970-985
• All: 1 reference(s)