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. 2017 Feb 23;7:43220. doi: 10.1038/srep43220

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 Fgfr3G374R8. 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.