Table 1.

Summary of WBS features and phenotypes in PD, DD and double heterozygous (D/P) mice

WBS feature	Mouse findings		PD	DD	D/P
General characterization
Growth delay, short stature	Reduced body weight		*m	(+)m	****m
Short cranial base, midface hypoplasia	Foreshortened skull		−	+	++
Vascular stenoses	Reduced aortic wall motion		−	***	***
Hernia, prolapse, constipation	Hernia, rectal prolapse		−	+	++
CNS abnormality
Reduced brain weight	Reduced brain weight		**f	***	****
	Reduced volume of LVs		**	−	*
Increased neuronal packing	Increased neuronal cell density		*	−	**
Behaviour	Test
Social disinhibition	Social choice paradigm	SUMC	*	−	*
	Partition test	BCM	*	*	*
	Direct social interaction		*	−	−
	Tube test (social dominance)	BCM	*	−	*
Anxiety	Open field exploration (centre ratio)	SUMC	*	*	*
		BCM	*	*	*
	Light–dark box	BCM	−	−	−
	Marble burying	BCM	−	−	−
Learning/memory	Contextual fear	BCM	−	*	-
Motor deficit	Rotarod	SUMC	*	−	***
		BCM	−	−	*
	Wire hanging	SUMC	−	−	**
Sensitivity to sound	Acoustic startle	BCM	*	−	−
Sensorimotor processing	Prepulse inhibition	BCM	*	−	−
	Gap detection	BCM	−	*	−

⁺Abnormality observed; for quantitative data:

^*p < 0.05,

^**p < 0.01,

^***p < 0.001,

^****p < 0.0001.

^ffemale only; m, male only.

‘++’, defect relatively more severe; (+), non-significant trend; −, no difference between WT and deletion mice. Sites for behavioural tests, BMC, Baylor College of Medicine; SUMC, Stanford University Medical Center.