Cftr^tm1Unc
Targeted Allele Detail

Summary

• Symbol: Cftr^tm1Unc
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of North Carolina
• MGI ID: MGI:1856709
• Synonyms: Cftr-, Cftr-.ko, cftr^m1UNC, CFTR S489X-, Cftr^UNC, mCFTR^-, p.S489*, S489X, UNC
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm1Unc page

Pancreatic morphology and morphometry of Cftr^tm1Unc/Cftr^tm1Unc mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:2079
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin selection cassette was inserted into exon 11 (exon 10 in legacy nomenclature numbering) 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)

Disease models

Expression

In Mice Carrying this Mutation:	6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	29 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 8 strains available Cell Lines: 0 lines available
• Carrying any Cftr Mutation: 98 strains or lines available

Notes

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).

References

• 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: 272 reference(s)