Fus^tm2.1Emcf
Targeted Allele Detail

Summary

• Symbol: Fus^tm2.1Emcf
• Name: fused in sarcoma; targeted mutation 2, Elizabeth MC Fisher
• MGI ID: MGI:6196871
• Synonyms: FUSDelta14
• Gene: Fus Location: Chr7:127565276-127581204 bp, + strand Genetic Position: Chr7, 69.87 cM
• Alliance: Fus^tm2.1Emcf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:249965
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The mouse gene sequence was modified to reproduce an amyotrophic lateral sclerosis- (ALS-) associated human mutation (p.G466VfsX14) in which an A-to-G substitution occurred in the exon 14 splice acceptor sequence. This causes exon 14 to be skipped, leading to a reading frameshift and incorporation of 14 miscoded amino acids from exon 15 (the final exon) before an early termination codon is encountered. The same splice-acceptor substitution was introduced into the mouse gene, and the coding sequence of mouse exon 15 was humanized by four nucleotide substitutions and an ATTA insertion so that the resulting protein would contain the same incorrect C-terminal 14 amino acids. This was accomplished using the same targeting construct as for Fus^tm1.1Emcf. A single FRT site marks the position where a neomycin selection cassette was deleted by Flp recombinase. (J:249965)
• Inheritance: Dominant

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 Fus Mutation: 40 strains or lines available

References

• Original: J:249965 Devoy A, et al., Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain. 2017 Nov 1;140(11):2797-2805
• All: 2 reference(s)