|
|
| 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 (knock-in) |
|
Mutation: | |
Intragenic deletion |
| |
|
Mutation details: 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. (J:29074)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
|
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: |
40 reference(s)
|
|
Analysis Tools
