Ttr^{tm3(TTR*)Kymm}
Targeted Allele Detail

Summary

• Symbol: Ttr^{tm3(TTR*)Kymm}
• Name: transthyretin; targeted mutation 3, Ken-ichi Yamamura
• MGI ID: MGI:3838183
• Synonyms: Ttr^hTTRMet30, TTR^MET30
• Gene: Ttr Location: Chr18:20798337-20807378 bp, + strand Genetic Position: Chr18, 11.47 cM
• Alliance: Ttr^{tm3(TTR*)Kymm} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:146510
• Parent Cell Line: TT2 (ES Cell)
• Strain of Origin: (C57BL/6NCrlj x CBA/JNCrlj)F1

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, RMCE-ready)
• Mutations: Insertion, Intragenic deletion
• Ttr^{tm3(TTR*)Kymm} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TTR (7276)

  Ttr	(MGI:98865)

• Mutation details: ES cells containing the Ttr^tm1Kymm null allele that serves as acceptor in recombination mediated cassette exchange were electroporated with a replacement vector and a cre recombinase expression vector. The replacement vector consisted of a variant human TTR cDNA and a FRT-flanked puromycin resistance gene flanked by a lox66 and a loxP site. The variant sequence encodes a Methionine at position 30 instead of a Valine (V30M). Human but not mouse TTR protein was detected in the liver and serum of homozygote mice by immunoblot assays. (J:146510)

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 Ttr Mutation: 44 strains or lines available

References

• Original: J:146510 Zhao G, et al., Inconsistency between hepatic expression and serum concentration of transthyretin in mice humanized at the transthyretin locus. Genes Cells. 2008 Nov 13;13(12):1257-1268
• All: 3 reference(s)