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Cftrtm3Bay
Targeted Allele Detail
Summary
Symbol: Cftrtm3Bay
Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 3, Baylor College of Medicine
MGI ID: MGI:1857898
Synonyms: cftrm3Bay
Gene: Cftr  Location: Chr6:18170686-18322767 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Alliance: Cftrtm3Bay page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:29656
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsSequences in exon 2 were mutated (c.134_138CAGCT>AACGTC) to create an in-frame stop codon (p.S45*) and frameshift. A neomycin resistance gene cassette was inserted in reverse transcriptional orientation into intron 1 of the gene. (J:29656)
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: 4 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:  97 strains or lines available
References
Original:  J:29656 Hasty P, et al., Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene. Somat Cell Mol Genet. 1995 May;21(3):177-87
All:  4 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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Funding Information
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory