Cftr^tm2Mrc
Targeted Allele Detail

Summary

• Symbol: Cftr^tm2Mrc
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 2, Mario R Capecchi
• MGI ID: MGI:3688281
• Synonyms: Cftr^tm2Uth, p.R117H, R117H
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm2Mrc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:112450
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• In this allele codon 117 in exon 4 was changed from arginine to histidine (p.R117H). (J:112450)

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

References

• Original: J:112450 van Heeckeren AM, et al., Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. Am J Physiol Lung Cell Mol Physiol. 2004 Nov;287(5):L944-52
• All: 5 reference(s)