Cftr^tm1Kth
Targeted Allele Detail

Summary

• Symbol: Cftr^tm1Kth
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, Kirk R Thomas
• MGI ID: MGI:1857151
• Synonyms: c.1656_1660del, CFTRdeltaF508, deltaF, deltaF508 Cftr, p.F508del
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm1Kth page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:29074
• Parent Cell Line: CC1.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: The allele contains a 3 bp deletion in exon 11 resulting in the loss of phenylalanine codon 508 (p.F508del). This deletion mimics the deltaF508 mutation found in human cystic fibrosis patients. A neomycin selection cassette was also inserted in intron 11 in reverse transcriptional orientation to the gene. In salivary glands transcription levels from the allele are comparable to wild-type, but no protein was detected. Protein was detected in testes but it was mislocalized. Transcription levels in intestine were greatly reduced. (J:29074)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Cftr Mutation: 98 strains or lines available

Notes

This (J:29074) and other (J:27734, J:28979) targeted mutations reproduce the common human mutation, eliminating the same phenylalanine from the protein sequence. In at least one of these models, the mutant is temperature sensitive, and can be expressed on the apical membrane when cultured at low temperatures, which is also true of the human mutant lacking the same phenylalanine residue (J:35364).

References

• Original: J:29074 Zeiher BG, et al., A mouse model for the delta F508 allele of cystic fibrosis. J Clin Invest. 1995 Oct;96(4):2051-64
• All: 81 reference(s)