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 1Introduction of Gly369Cys mutation into the mouse
Fgfr3 locus. (
a) Targeting construct,
pFgfr3-Gly369Cys, contained the Gly369Cys mutation in exon 10 and a
pLoxpneo gene in intron 10 of the
Fgfr3 gene. Of 120 G418
r/FIAU
r clones examined by Southern blot analysis using a 5′ flanking probe (probe 1), 5 clones showed an extra fragment of approximately 11 kb upon
NotI +
EcoRV digestion (
c). The targeting events were confirmed by
XbaI +
EcoRV digestion using a 3′ internal probe (probe 2). Three of them had the point mutation co-transferred as indicated by sequencing (unpublished observations). (
b) Removal of the
pLoxpneo gene by breeding with
EIIa-cre transgenic mice. The Cre-mediated deletion was genotyped by PCR as described in the Methods section.