Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
J. Clin. Invest. Lin Chen, et al. 104:1517 doi:10.1172/JCI6690 [
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Figure 4Macrocephaly results from retarded growth of the cranial base. (
a) Dorsal view of x-ray images of skulls of P21 day old 369/369, 369/+, and WT mice. (
b) Cranial base of WT, and (
c) 369/369 mice. Arrows point to synchondroses: basooccipital (oc), basosphenoid (ba) and presphenoid (pr). Notice the absence of synchondroses in 369/369 mice (arrows in
c). (
d) H&E image of a WT synchondrosis, which exhibits typical growth plate structures, including proliferating and maturing chondrocytes [positive for
Fgfr3 (
e)], and hypertrophic chondrocytes [positive for collagen type X (
f)]. (
g) H&E image of corresponding region of a 369/369 synchondrosis, which had completely turned into bone. (
h–
j) P6 synchondroses (arrows) of 369/369 (
h), 369/+ (
i) and WT (
j) mice. The 369/369 synchondrosis was much thinner than the WT synchondrosis and was in a process of resolving, while the 369/+ synchondrosis (
i) exhibited an intermediate phenotype between those of 369/369 and WT.