Ttr^em1(TTR)Kymm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ttr^em1(TTR)Kymm
• Name: transthyretin; endonuclease-mediated mutation 1, Ken-ichi Yamamura
• MGI ID: MGI:6885604
• Synonyms: Ttr^hTTRV30exon, Ttr^hV30
• Gene: Ttr Location: Chr18:20798337-20807378 bp, + strand Genetic Position: Chr18, 11.47 cM
• Alliance: Ttr^em1(TTR)Kymm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:320726
• Parent Cell Line: RENKA (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Ttr^em1(TTR)Kymm expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TTR (7276)

  Ttr	(MGI:98865)

  Human exons, mouse introns

• Mutation details: CRISPR/Cas9 technology using two gRNAs, one for exon 1 and one for exon 4, and a single donor vector carrying the whole gene in which mouse exons were replaced with human exons but with mouse introns, replaced the endogenous gene with this exon-humanized TTR gene. The a6221 clone showed germline transmission and no gross rearrangement or deletion and sequencing confirmed that all exons have human sequencing. (J:320726)

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 Ttr Mutation: 40 strains or lines available

References

• Original: J:320726 Li Z, et al., TTR exon-humanized mouse optimal for verifying new therapies for FAP. Biochem Biophys Res Commun. 2022 Feb 10;599:69-74
• All: 1 reference(s)