Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

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: Chr6:18170686-18322767 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3 Alliance: Cftrtm1Unc page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	5 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	29 anatomical structure(s)

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:	97 strains or lines available

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:	270 reference(s)