Table 3. Similarity of skeletal features found in human achondroplasia and observed in achondroplasia mouse models.
Skeletal features of human achondroplasia | Tg mFgfrACH | KI mFgfr3ACH | Tg hFGFR3ACH | KI hFGFR3ACH |
---|---|---|---|---|
Rhizomelic dwarfism at birth | NS | NS | At birtha | At birth |
Large head with frontal bossing, mid-face hypoplasia at birth | 21 days | 10 days | At birth | At birth |
Craniosynostosis at birth | ND | ND | ND | At birth |
Low bone density in adolescent and adult | ND | ND | ND | At birth |
Homozygous ACH patients are stillborn or die during the neonatal period | ND | ND | Die soon after birth | A higher mortality rate at birth |
Thoracic kyphosis by 4 months | 1 month | 5 weeks | ND | 1 month |
Narrow growth plate | 10 days | 1 month | At birth | 1 month |
Tg mFgfr3ACH, transgenic mice expressing mouse Fgfr3G374R using the type II collagen promoter and enhancer sequences10. KI mFGFR3ACH, gene targeting mouse Fgfr3G374R 8. Tg hFGFR3ACH, transgenic mice expressing human FGFR3G380R using the mouse Fgfr3 promoter11. KI hFGFR3ACH, gene targeting human FGFR3G380R as described in this report. ND, not described; NS, not significant.
aThe time point when the specific phenotype was first observed in each ACH mouse model.