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Cftrtm1Kth
Targeted Allele Detail
Nomenclature
Symbol: Cftrtm1Kth
Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, Kirk R Thomas
MGI ID: MGI:1857151
Synonyms: CFTRdeltaF508, deltaF, deltaF508 Cftr
Gene: Cftr  Location: Chr6:18170687-18322768 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
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
Mutation:    Intragenic deletion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  13 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:  43 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory