title: [Gly374Arg mutation in Fgfr3 causes achondroplasia in mice].
abstract: OBJECTIVE
  To establish the mouse model of Gly374Arg mutation in fibroblast growth factor receptor 3(Fgfr3) and to analyze the phenotype of the mutant mice.
  
  
  METHODS
  The double PCR was used to introduce Gly374Arg point mutation into mouse Fgfr3. The electroporation of embryonic stem(ES) cells was carried out with targeting vector. The targeted ES cells were screened by Positive-Negative Selection of G418 and Ganciclovir, and Southern blot. The correct targeted ES cells were microinjected into blastula. Finally, mutant mice were obtained by crossing between EIIa-Cre transgenic mice and mice carrying recombined mutant Fgfr3 allele. The mice were genotyped by PCR, and phenotype was observed by skeleton staining, histology, etc.
  
  
  RESULTS
  Fgfr3-Gly374Arg mutant mice exhibited small size, short tail, macrocephaly and had dome-shaped heads, the epiphyseal growth plates of mutant mice were narrower, and the hypertrophic chondrocyte zone was also obviously decreased. Meanwhile, the majority of female mice were infertile, and the uterus, ovary and mammal gland in mutant female mice were also smaller and underdeveloped.
  
  
  CONCLUSIONS
  The model of Fgfr3-Gly374Arg mutation causing achondroplasia in mice has been established successfully.
authors.affiliation: Department of Clinical Biological Technology, State Key Laboratory of Trauma Medicine, Chongqing, 400042 P. R. China.
authors.forename: Jian-min
authors.initials: JM
authors.lastname: Wang
authors.forename: Xiao-lan
authors.initials: XL
authors.lastname: Du
authors.forename: Cui-ling
authors.initials: CL
authors.lastname: Li
authors.forename: Liang-jun
authors.initials: LJ
authors.lastname: Yin
authors.forename: Bo
authors.initials: B
authors.lastname: Chen
authors.forename: Jing
authors.initials: J
authors.lastname: Sun
authors.forename: Nan
authors.initials: N
authors.lastname: Su
authors.forename: Ling
authors.initials: L
authors.lastname: Zhao
authors.forename: Rui-hua
authors.initials: RH
authors.lastname: Song
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Song
authors.forename: Lin
authors.initials: L
authors.lastname: Chen
authors.forename: Chu-xia
authors.initials: CX
authors.lastname: Deng
mesh_terms: D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D010053:Ovary / Q000473:pathology; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014599:Uterus / Q000473:pathology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; C496366:Fgfr3 protein, mouse; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3