A central nervous system specific mouse model for thanatophoric dysplasia type II

Hum Mol Genet. 2003 Nov 1;12(21):2863-71. doi: 10.1093/hmg/ddg309. Epub 2003 Sep 9.

Abstract

To investigate the specific effect of the Fgfr3 K644E mutation on central nervous system (CNS) development, we have generated tissue-specific TDII mice by crossing Fgfr3(+/K644E-neo) transgenic mice with CNS-specific Nestin-cre or cartilage-specific Col2a1-cre mice. TDII/Nestin-cre (TDII-N) neonates did not demonstrate a profound skeletal phenotype. TDII-N pups were comparable to their wild-type littermates in terms of tail length, fore and hindlimbs, and body weight; however, many pups exhibited notably round heads. MRI and histochemical analysis illustrated asymmetric changes in cortical thickness and cerebellar abnormalities in TDII-N mice, which correlate with brain abnormalities observed in human TDII patients. Such abnormalities were not seen in TDII/Col2a1-cre (TDII-C) mice. Upon examination of adult TDII-N spinal cord, premature differentiation of oligodendrocyte progenitors was observed. Overall, these data indicate that the tissue-specific mouse model is an excellent system for studying the role of Fgfr3 in the developing CNS.

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Brain / embryology
  • Brain / metabolism
  • Brain / pathology*
  • Cell Differentiation / genetics
  • Cell Division / genetics
  • Dendritic Cells / pathology
  • Embryonic and Fetal Development
  • Humans
  • Integrases / metabolism
  • Magnetic Resonance Imaging
  • Mice
  • Mice, Transgenic
  • Phenotype
  • Protein-Tyrosine Kinases / genetics*
  • Protein-Tyrosine Kinases / metabolism
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Receptors, Fibroblast Growth Factor / metabolism
  • Spinal Cord / embryology
  • Spinal Cord / metabolism
  • Spinal Cord / pathology*
  • Thanatophoric Dysplasia / genetics
  • Thanatophoric Dysplasia / metabolism*
  • Viral Proteins / metabolism

Substances

  • Receptors, Fibroblast Growth Factor
  • Viral Proteins
  • FGFR3 protein, human
  • Fgfr3 protein, mouse
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3
  • Cre recombinase
  • Integrases