Cftr^tm2Cam
Targeted Allele Detail

Summary

• Symbol: Cftr^tm2Cam
• 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: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm2Cam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:27734
• Parent Cell Line: TG4 (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A three base pair deletion results in the deletion of phenylalanine codon 508 (p.F508del). An HPRT minigene was also inserted into intron 11 in reverse transcriptional orientation relative to the gene. A mutant transcript is expressed and 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%. The deletion mimics the deltaF508 mutation found in human cystic fibrosis patients. (J:27734)

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Cftr Mutation: 98 strains or lines available

References

• 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: 9 reference(s)