Tg(FGFR3-G380R)7Aya
Transgene Detail

Summary

• Symbol: Tg(FGFR3-G380R)7Aya
• Name: transgene insertion 7, Avner Yayon
• MGI ID: MGI:2386939
• Synonyms: hFGFR-3^G380R
• Transgene: Tg(FGFR3-G380R)7Aya Location: unknown
• Alliance: Tg(FGFR3-G380R)7Aya page

Transgene origin

• Strain of Origin: (BALB/c x C57BL/6)F1

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(FGFR3-G380R)7Aya expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  FGFR3 (2261)

  Fgfr3

  (MGI:95524)

  Transgene codes for a protein with a glycine to arginine mutation.

• Mutation details: The human FGFR3 gene carrying a glycine to arginine subsitution at amino acid 380 (G380R), a mutation found in the majority of achondroplasia patients, was fused to the mouse Fgfr3 promoter and first non-coding exon (-2311 to +156) and used as the transgene. RT-PCR analysis showed transgene expression in 16 day chondrocytes from transgenic embryos. The transgene expression pattern is similar to that of the endogenous protein as demonstrated by in situ hybridization analysis. (J:59887)

Disease models

Expression

In Structures Affected by this Mutation:

18 anatomical structure(s)

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

Notes

Founder 7 carrying low transgene copy numbers at a single integration site were used for analysis.

References

• Original: J:59887 Segev O, et al., Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice. Hum Mol Genet. 2000 Jan 22;9(2):249-58
• All: 1 reference(s)