Table 2.

The skull base and vertebral phenotypes in Neanderthals and individuals with DGS/VCFS compared to modern humans, and the phenotypes that differ between Tbx1-KO and wild-type mice

		Humans			Newborn mice
		Modern	DGS/VCFS	Neanderthals	Tbx1-KO	Wild-type
TBX1, Tbx1	gene dosage	100%	50%	N/A	0%	100%
	gene expression	100%	predicted to be lower	predicted to be lower	0%	100%
Skull base and vertebral morphology
Skull base	platybasia	control	+	+	+ (this study)	control
	shorter length of posterior skull base	control	+	+	+	control
	elongated foramen magnum	control	+ (this study)	+	+ (this study)	control
	basilar impression	control	+	N/A	N/A	control
Vertebral column	hypoplastic or anomalous atlas (C1)	control	+	+	+	control
	dysmorphic axis (C2)	control	+	+	+	control
	fusion of C1–C2	control	+	+	N/A	control
	fusion of C2–C3	control	+	+	N/A	control
	lower dorsal height of the C2–C7	control	+	+	+ (this study)	control
	platyspondyly (cervical and thoracic)	control	+	+	+ (this study)	control
Other traits
Limb	distal shortening of limbs	control	N/A	+	+ (this study)	control
Neck	short neck	control	+	+	+	control
Height	short stature	control	+	+	+	control

“+” represents the present phenotype. N/A, not available. Full details are presented in Table S4.