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Targeted Allele Detail
Symbol: Cftrtm1Unc
Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of North Carolina
MGI ID: MGI:1856709
Synonyms: Cftr-, Cftr-.ko, cftrm1UNC, CFTR S489X-, CftrUNC, mCFTR-, p.S489*, S489X, UNC
Gene: Cftr  Location: Chr6:18170687-18322768 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Pancreatic morphology and morphometry of Cftrtm1Unc/Cftrtm1Unc mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:2079
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA neomycin selection cassette was inserted into exon 10 at sequences corresponding to codon 489 of the encoded protein. The authors predict that a truncated protein with amino acid 488 changed from isoleucine to alanine and a stop codon at position 489 are produced from this allele. (J:2079)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 27 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 5 strains available      Cell Lines: 0 lines available
Carrying any Cftr Mutation:  13 strains or lines available
Epithelial tissue from the gastrointestinal tract and airways exhibit abnormal cyclic AMP-mediated chloride ion transport similar to that observed in CF patients (J:23817).
Original:  J:2079 Snouwaert JN, et al., An animal model for cystic fibrosis made by gene targeting. Science. 1992 Aug 21;257(5073):1083-8
All:  201 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 6.13
The Jackson Laboratory