These Cftr knock-out mice exhibit neonatal lethality with abnormal bowel development. They may be useful in applications related to the study of cystic fibrosis.
Dr. Kirk R. Thomas, Univ of Utah
The Cftrtm1Kth targeted mutation corresponds to the delta 508 mutation in humans. Homozygous mutant mice show an increased mortality within the first month after birth, with ~60% mortality by post-weaning. Those that survive are fertile, but females are poor breeders. Mutant mice are also reduced in size compared to normal wildtype mice. Those that do not survive to adulthood show bowel obstructions, bowel strictures and peritonitis. Lungs, pancreas, gall bladder, male reproductive tract, lacrimal gland, and submandibular glands from homozygous mice appear normal regardless of the survival of the animal. Homozygous mice also show a tissue-specific loss of CFTR transcripts in the intestine.
The Cftrtm1Kth targeted mutation was made in the laboratory of Dr. Kirk R. Thomas at the University of Utah. The mutated allele contains a 3-bp (CTT) deletion between bases 1656 and 1660 resulting in the loss of a phenylalanine residue in exon 10 at a position which corresponds to human position 508. The 129S6/SvEv-derived CC1.2 ES cell line was used.
|Allele Name||targeted mutation 1, Kirk R Thomas|
|Allele Synonym(s)||CFTRdeltaF508; c.1656_1660del; deltaF; deltaF508 Cftr; p.F508del|
|Gene Symbol and Name||Cftr, cystic fibrosis transmembrane conductance regulator|
|Gene Synonym(s)||ABC35; ABCC7; AW495489; Abcc7; CF; CFTR/MRP; MRP7; RGD1561193; TNR-CFTR; dJ760C5.1; expressed sequence AW495489|
|Promoter||Cftr, cystic fibrosis transmembrane conductance regulator, mouse, laboratory|
|Strain of Origin||129S7/SvEvBrd|
|General Note||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).|
|Molecular Note||The 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.|
|Mutations Made By|| |
Dr. Kirk Thomas, Univ of Utah
This strain is currently being maintained by mating heterozygous siblings; this is the most effective breeding strategy. Homozygous males will breed while homozygous females are very poor breeders. Expected coat color from breeding:Black
When using the ΔF mouse strain in a publication, please cite the originating article(s) and include JAX stock #002515 in your Materials and Methods section.
|Heterozygous or Wild-type for Cftr<tm1Kth>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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