Cftr^tm1Eur
Targeted Allele Detail

Summary

• Symbol: Cftr^tm1Eur
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1 Erasmus University Rotterdam
• MGI ID: MGI:1857899
• Synonyms: c.1524_1526del, deltaF508, F508del, p.F508del
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm1Eur page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:28979
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: A "Hit and Run" type method was used to create a three base pair deletion in the gene that eliminated phenylalanine codon 508 (p.F508del), creating a mouse model for the deltaF508 mutation found in human cystic fibrosis patients. (J:28979)

Disease models

Expression

In Structures Affected by this Mutation:

7 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:28979 van Doorninck JH, et al., A mouse model for the cystic fibrosis delta F508 mutation. EMBO J. 1995 Sep 15;14(18):4403-11
• All: 61 reference(s)