|
|
| Nomenclature |
|
Symbol:
|
Cftrtm3Hgu
|
|
Name:
|
cystic fibrosis transmembrane conductance regulator;
targeted mutation 3, MRC Human Genetics Unit
|
|
MGI ID: |
MGI:2177540 |
|
Synonyms: |
cftrG551D, cftrTgHm1G551D, Cftrtm1G551D |
|
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:32766
|
|
Parent Cell Line:
| E14 (ES Cell) |
|
Strain of Origin:
|
129P2/OlaHsd
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: A mutation was created in exon 11 that altered codon 551 from one encoding glycine to one encoding aspartate. In addition, two tandem copies of a neomycin resistance cassette were inserted into intron 11b. (J:32766)
|
|
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)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Cftr Mutation:
|
13 strains or lines available |
|
| References |
|
Original: |
J:32766
Delaney SJ et al.,
"Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations."
EMBO J 1996 Mar 1;15(5):955-63
|
|
All: |
7 reference(s)
|
|
Analysis Tools
