Tgfbi^{tm1.1(TGFBI*)Ccbko}
Targeted Allele Detail

Summary

• Symbol: Tgfbi^{tm1.1(TGFBI*)Ccbko}
• Name: transforming growth factor, beta induced; targeted mutation 1.1, Shigeto Shimmura
• MGI ID: MGI:7526231
• Synonyms: Tgfbi^{tm1.1(TGFBI*R124H)Ccbko}
• Gene: Tgfbi Location: Chr13:56757399-56787172 bp, + strand Genetic Position: Chr13, 30.09 cM, cytoband B-C1
• Alliance: Tgfbi^{tm1.1(TGFBI*)Ccbko} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:238525
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Inserted expressed sequence)
• Mutation: Insertion
• Tgfbi^{tm1.1(TGFBI*)Ccbko} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TGFBI (7045)

  Tgfbi

  (MGI:99959)

  R124H mutation

• Mutation details: The targeting construct replaced a portion of exon 1 with a floxed human cDNA with the mutation responsible for the amino acid substitution of arginine with histidine at position 124 (R124H), polyadenylation sequence, and FRT-flanked neomycin resistance cassette. Flp-mediated recombination removed the selection cassette. (J:238525)

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 Tgfbi Mutation: 39 strains or lines available

References

• Original: J:238525 Yamazoe K, et al., Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2. PLoS One. 2015;10(7):e0133397
• All: 1 reference(s)