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Targeted Allele Detail
Symbol: Cftrtm1Kth
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: Chr6:18170687-18322768 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Germline Transmission:  Earliest citation of germline transmission: J:29074
Parent Cell Line:  CC1.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd
Allele Type:    Targeted
Mutation:    Intragenic deletion
Mutation detailsThe allele contains a 3 bp deletion in exon 10 of nucleotides between 1656 to 1660, resulting in the loss of a codon corresponding to a phenylalanine. A neomycin selection cassette was also inserted in intron 10 in reverse transcriptional orientation to the gene. (J:29074)
View phenotypes for all genotypes (concatenated display).
Disease models
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:  31 strains or lines available
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).

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:  48 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
The Jackson Laboratory