About   Help   FAQ
Cftrem3Cwr
Endonuclease-mediated Allele Detail
Summary
Symbol: Cftrem3Cwr
Name: cystic fibrosis transmembrane conductance regulator; endonuclease-mediated mutation 3, Case Western Reserve University
MGI ID: MGI:6192450
Synonyms: G542X
Gene: Cftr  Location: Chr6:18170686-18322767 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Alliance: Cftrem3Cwr page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Hypomorph)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/Cas9 technology introduced a G to T mutation, changing the glycine at amino acid 542 to a stop codon (G542X), resulting in the most common missense mutation seen in cystic fibrosis. A silent T to C mutation was also inserted. qRT-PCR indicates reduced expression levels. Treating mice with the aminoglycoside G418, a suppressor of nonsense mutations, results in an increase in Cftr mRNA. (J:262928)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cftr Mutation:  97 strains or lines available
References
Original:  J:262928 McHugh DR, et al., A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. PLoS One. 2018;13(6):e0199573
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory