Fus^tm1.1Neas
Targeted Allele Detail

Summary

• Symbol: Fus^tm1.1Neas
• Name: fused in sarcoma; targeted mutation 1.1, Neil A Shneider
• MGI ID: MGI:7510130
• Synonyms: Fus^P517L
• Gene: Fus Location: Chr7:127565276-127581204 bp, + strand Genetic Position: Chr7, 69.87 cM
• Alliance: Fus^tm1.1Neas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:326930
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A proline to leucine substitution at amino acid 527 (p.P517L) was introduced in exon 15. The FRT-flanked neomycin resistance cassette that was inserted 50 bp downstream of the end of the 3 UTR was removed via flp-mediated recombination. This mutation is equivalent to the human P525L allele associated with a rapidly progressive, juvenile-onset form of amyotrophic lateral sclerosis. (J:326930)

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: 57 strains or lines available

Notes

GFP-expressing LB10 mouse embryonic stem cells derived from a C57BL6/N mouse.

References

• Original: J:326930 Korobeynikov VA, et al., Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis. Nat Med. 2022 Jan;28(1):104-116
• All: 2 reference(s)