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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:32766
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA 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)
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:  12 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory