Cftr^tm2Hgu
Targeted Allele Detail

Summary

• Symbol: Cftr^tm2Hgu
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 2, MRC Human Genetics Unit
• MGI ID: MGI:2177539
• Synonyms: G480C, p.G480C
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm2Hgu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:74740
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A "Hit and Run" type strategy was used to create a mutation in exon 11 (c.GGGA>ATGC) that changes codon 480 from glycine to cysteine (p.G480C) and at the same time creates a diagnostic NsiI restriction enzyme site overlapping the cysteine codon. (J:74740)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:74740 Dickinson P, et al., The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Hum Mol Genet. 2002 Feb 1;11(3):243-51
• All: 3 reference(s)