Flnc^tm1.1Rsdf
Targeted Allele Detail

Summary

• Symbol: Flnc^tm1.1Rsdf
• Name: filamin C, gamma; targeted mutation 1.1, Rolf Schroder and Dieter O Furst
• MGI ID: MGI:5907163
• Gene: Flnc Location: Chr6:29433255-29461882 bp, + strand Genetic Position: Chr6, 12.36 cM
• Alliance: Flnc^tm1.1Rsdf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:226976
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutations: Insertion, Single point mutation
• Mutation details: A stop codon was created by a G to A mutation in exon 48 (W2711X) mimicking the most common myofibrillar myopathy-filaminopathy mutation in man. I addition a loxP site and FRT flanked neo cassette was inserted upstream of exon 47 and a loxP site was inserted the untranslated region of exon 48. Flp mediated recombination removed the neo cassette. RT-PCR analysis indicates mRNA levels are similar to wild-type. Protein levels are also similar to wild-type. (J:226976)

Disease models

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 Flnc Mutation: 128 strains or lines available

References

• Original: J:226976 Chevessier F, et al., Myofibrillar instability exacerbated by acute exercise in filaminopathy. Hum Mol Genet. 2015 Dec 20;24(25):7207-20
• All: 3 reference(s)