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Cftrtm3Mrc
Targeted Allele Detail
Summary
Symbol: Cftrtm3Mrc
Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 3, Mario R Capecchi
MGI ID: MGI:3688292
Synonyms: Cftrtm3Uth, p.Y122X, Y122X
Gene: Cftr  Location: Chr6:18170686-18322767 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Alliance: Cftrtm3Mrc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:112450
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
    In this allele codon 122 in exon 4 was changed from tyrosine to a stop codon (p.Y122*). (J:112450)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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:  98 strains or lines available
References
Original:  J:112450 van Heeckeren AM, et al., Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. Am J Physiol Lung Cell Mol Physiol. 2004 Nov;287(5):L944-52
All:  1 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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory