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Targeted Allele Detail
Symbol: Cftrtm2Cam
Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 2, University of Cambridge
MGI ID: MGI:1857896
Synonyms: c.1522_1524del, deltaF508-, p.F508del
Gene: Cftr  Location: Chr6:18170687-18322768 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Germline Transmission:  Earliest citation of germline transmission: J:27734
Parent Cell Line:  TG4 (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA three base pair deletion between nucleotides 1522 and 1524 is predicted to cause the deletion of phenylalanine 508 from the encoded protein. An HPRT minigene was also inserted in reverse transcriptional orientation relative to the gene. A mutant transcript is expressed ind is identified in salivary glands, lungs, pancreas, kidney and small intestine at approximately 15% of the wild-type level, except in the salivary glands at 3% of the control value. (J:27734)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  31 strains or lines available
Original:  J:27734 Colledge WH, et al., Generation and characterization of a delta F508 cystic fibrosis mouse model. Nat Genet. 1995 Aug;10(4):445-52
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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last database update
MGI 6.03
The Jackson Laboratory