Fgfr3^{tm1.1(FGFR3*)Ytc}
Targeted Allele Detail

Summary

• Symbol: Fgfr3^{tm1.1(FGFR3*)Ytc}
• Name: fibroblast growth factor receptor 3; targeted mutation 1.1, Yuan-Tsong Chen
• MGI ID: MGI:6416441
• Synonyms: FGFR3^ACH, FGFR3^G380R
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^{tm1.1(FGFR3*)Ytc} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:287271
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion, Nucleotide substitutions
• Fgfr3^{tm1.1(FGFR3*)Ytc} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  FGFR3 (2261)

  Fgfr3

  (MGI:95524)

  expresses the G380R mutation

• Mutation details: A human FGFR3 cDNA (NM_000142) with a glycine to arginine substitution at amino acid 380 (G380R), a FRT-flanked neomycin selection cassette, and a loxP site replaced a part of exon 2 to exon 17 of the mouse gene. Flp-mediated recombination removed the neomycin selection cassette. (J:287271)

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 Fgfr3 Mutation: 54 strains or lines available

References

• Original: J:287271 Lee YC, et al., Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. Sci Rep. 2017 Feb 23;7:43220
• All: 3 reference(s)